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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
Abstract: Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
Published: 2023

2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
Abstract: Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
Published: 2023

3. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
Abstract: Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
Published: 2023

4. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
Abstract: Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
Published: 2023

5. Quality of life in men with Klinefelter syndrome: a multicentre study

Author: Franik, S, Fleischer, K., Kortmann, B.B., Stikkelbroeck, N., Hauwers, K.W.M. d', Bouvattier, C., Slowikowska-Hilczer, J., Grunenwald, S., Grift, T. van de, Cartault, A., Richter-Unruh, A., Reisch, N., Thyen, U., IntHout, J., Claahsen-van der Grinten, H.L., Franik, S, Fleischer, K., Kortmann, B.B., Stikkelbroeck, N., Hauwers, K.W.M. d', Bouvattier, C., Slowikowska-Hilczer, J., Grunenwald, S., Grift, T. van de, Cartault, A., Richter-Unruh, A., Reisch, N., Thyen, U., IntHout, J., and Claahsen-van der Grinten, H.L.
Abstract: Contains fulltext : 297326.pdf (Publisher’s version ) (Open Access), BACKGROUND: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS. DESIGN: Cross-sectional multicentre study. METHODS: Two-hundred-eighteen men with KS were recruited from 14 clinical study centres in 6 European countries which participated in the European dsd-LIFE study. Male normative data from a healthy and a psychiatric reference population were used for comparison. The validated World Health Organization (WHO) QOL (WHOQOL)-BREF questionnaire was used to investigate five main domains of quality of life (WHOQOL): global, physical, psychological, environment, and social. RESULTS: The QOL physical domain score was lower for men with KS compared to the healthy reference population (KS: 66.9; s.d. 19.4, n = 193; healthy reference population: 76.5; s.d. 16.2, n = 1324, P < 0.001) but higher compared to the psychiatric reference population (54.6; s.d. 20.6; n = 77, P < 0.001). The WHOQOL-psychological domain score was lower for men with KS compared to the healthy reference population (KS: 63.6; s.d. 17.8, n = 193; healthy reference population: 67.8; s.d. 15.6, n = 1324, P < 0.05) but higher compared to the psychiatric reference population (45.9; s.d. 26.0), n = 77, P < 0.001). The social domain score on the WHOQOL questionnaire was found to be lower in men with Klinefelter syndrome (KS) compared to the healthy reference population (KS: 60.0; s.d. 21.6, n = 193; healthy reference population: 68.2; s.d. 13.8, n = 1324, P < 0.001). However, this score was similar to that of the psychiatric reference population (61.0; s.d. 17.0, n = 77, P = 0.5). The WHO environment domain score of men with KS (70.0; s.d. 15.0, n = 193) was similar to the healthy reference population (70.5; s.d. 20.7, n = 1324) but higher compared to the psychiatric refe
Published: 2023

6. The impact of Klinefelter syndrome on socioeconomic status: a multicenter study

Author: Franik, S, Fleischer, K., Kortmann, B.B.M., Stikkelbroeck, N., D'Hauwers, K.W.M., Bouvattier, C., Slowikowska-Hilczer, J., Grunenwald, S., Grift, T. van de, Cartault, A., Richter-Unruh, A., Reisch, N., Thyen, U., Hout, J. in 't, Claahsen-van der Grinten, H.L., Franik, S, Fleischer, K., Kortmann, B.B.M., Stikkelbroeck, N., D'Hauwers, K.W.M., Bouvattier, C., Slowikowska-Hilczer, J., Grunenwald, S., Grift, T. van de, Cartault, A., Richter-Unruh, A., Reisch, N., Thyen, U., Hout, J. in 't, and Claahsen-van der Grinten, H.L.
Abstract: Contains fulltext : 282361.pdf (Publisher’s version ) (Open Access), Klinefelter syndrome (KS) is associated with an increased risk of neuropsychological morbidity, such as learning disabilities, which may have a significant impact on socioeconomic status (SES). The objective of this study was to investigate the SES in men with KS and to associate this outcome with social participation, age at diagnosis, testosterone therapy and physical and mental health status. Men with KS were recruited in 14 clinical study centers in six European countries which participated in the European dsd-LIFE study. Two hundred five men with KS were eligible for inclusion. Male normative data from the European Social Surveys (ESS) were used for comparison. Data related to education, occupation, satisfaction with income and householding were collected. Compared to the ESS reference population, fewer men with KS achieved a high level of education (13% vs 25%, P < 0.001). There was a significant difference in having a paid job (55% vs 66%, P < 0.001), and the percentage of absence by sickness or disability was higher among men with KS (10% vs 3%, P < 0.001). Furthermore, satisfaction with current household's income was lower (32% vs 42%, P < 0.01). Lower scores for subjective general health were associated with lower scores for these outcomes. Men with KS achieve on average lower levels of education, occupation and report less satisfaction with income compared to the ESS reference population. The presence of health problems and lower scores of subjective general health was related to lower levels of occupation and lower satisfaction with income in men with KS.
Published: 2022

7. The impact of Klinefelter syndrome on socioeconomic status: a multicenter study

Author: Franik, S, Fleischer, K., Kortmann, B.B.M., Stikkelbroeck, N., D'Hauwers, K.W.M., Bouvattier, C., Slowikowska-Hilczer, J., Grunenwald, S., Grift, T. van de, Cartault, A., Richter-Unruh, A., Reisch, N., Thyen, U., Hout, J. in 't, Claahsen-van der Grinten, H.L., Franik, S, Fleischer, K., Kortmann, B.B.M., Stikkelbroeck, N., D'Hauwers, K.W.M., Bouvattier, C., Slowikowska-Hilczer, J., Grunenwald, S., Grift, T. van de, Cartault, A., Richter-Unruh, A., Reisch, N., Thyen, U., Hout, J. in 't, and Claahsen-van der Grinten, H.L.
Abstract: Contains fulltext : 282361.pdf (Publisher’s version ) (Open Access), Klinefelter syndrome (KS) is associated with an increased risk of neuropsychological morbidity, such as learning disabilities, which may have a significant impact on socioeconomic status (SES). The objective of this study was to investigate the SES in men with KS and to associate this outcome with social participation, age at diagnosis, testosterone therapy and physical and mental health status. Men with KS were recruited in 14 clinical study centers in six European countries which participated in the European dsd-LIFE study. Two hundred five men with KS were eligible for inclusion. Male normative data from the European Social Surveys (ESS) were used for comparison. Data related to education, occupation, satisfaction with income and householding were collected. Compared to the ESS reference population, fewer men with KS achieved a high level of education (13% vs 25%, P < 0.001). There was a significant difference in having a paid job (55% vs 66%, P < 0.001), and the percentage of absence by sickness or disability was higher among men with KS (10% vs 3%, P < 0.001). Furthermore, satisfaction with current household's income was lower (32% vs 42%, P < 0.01). Lower scores for subjective general health were associated with lower scores for these outcomes. Men with KS achieve on average lower levels of education, occupation and report less satisfaction with income compared to the ESS reference population. The presence of health problems and lower scores of subjective general health was related to lower levels of occupation and lower satisfaction with income in men with KS.
Published: 2022

8. Antenatal presentation of hereditary lymphedema type I.

Author: UCL - SSS/DDUV - Institut de Duve, Boudon, E., Levy, Y., Abossolo, T., Cartault, François, Brouillard, Pascal, Vikkula, Miikka, Kieffer-Traversier, M., Ramful, D., Alessandri, J. L., UCL - SSS/DDUV - Institut de Duve, Boudon, E., Levy, Y., Abossolo, T., Cartault, François, Brouillard, Pascal, Vikkula, Miikka, Kieffer-Traversier, M., Ramful, D., and Alessandri, J. L.
Abstract: Fetal edema can present as limited subcutaneous edema, fluid accumulation in body cavities or hydrops fetalis. Hydrops fetalis is the end stage of a variety of fetal/maternal disorders and nonimmune etiology represents more than 3/4 of cases. Lymphatic dysplasia may account for a subset of patients with nonimmune and "idiopathic" hydrops fetalis, fetal chylous ascites or chylothorax. We present two unrelated patients with antenatal features of hereditary lymphedema syndrome, in whom Milroy disease was diagnosed after birth. At least, 20 genes have been identified to cause primary lymphedema, with sometimes antenatal features. Hereditary lymphedema syndrome should be considered in cases of nonimmune hydrops fetalis/fetal edema after ruling out the more common etiologies.
Published: 2015

9. Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium

Author: Caparrós-Martín, Jose, De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J., Nevado, J., Rueda-Arenas, I., Heath, K., Digilio, M., Dallapiccola, B., Goodship, J., Mill, P., Lapunzina, P., Ruiz-Perez, V., Caparrós-Martín, Jose, De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J., Nevado, J., Rueda-Arenas, I., Heath, K., Digilio, M., Dallapiccola, B., Goodship, J., Mill, P., Lapunzina, P., and Ruiz-Perez, V.
Abstract: © The Author 2015. Published by Oxford University Press. All rights reserved. Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IFT121), in three families with a clinical diagnosis of EvC but having a distinctive phenotype. To understand why WDR35 variants result in EvC, we analysed EVC, EVC2 and Smoothened (SMO) in IFT-A deficient cells. We found that the three proteins failed to localize to Wdr35 -/- cilia, but not to the cilium of the IFT retrograde motor mutant Dync2h1 -/- , indicating that IFT121 is specifically required for their entry into the ciliary compartment. Furthermore expression of Wdr35 disease cDNAs in Wdr35 -/- fibroblasts revealed that the newly identified variants lead to Hedgehog signalling defects resembling those of Evc -/- and Evc2 -/- mutants. Together our data indicate that splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of EvC cases by disrupting targeting of both the EvC complex and SMO to cilia.
Published: 2015

10. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
Published: 2014
Full Text: View/download PDF

11. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
Published: 2014
Full Text: View/download PDF

12. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, D'Amato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwinski, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, Yap, Eric P. H., Yong, Rita Y. Y., Pajnic, Irena Zupanic, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, D'Amato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwinski, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, Yap, Eric P. H., Yong, Rita Y. Y., Pajnic, Irena Zupanic, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**
Published: 2014

13. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, D'Amato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwinski, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, Yap, Eric P. H., Yong, Rita Y. Y., Pajnic, Irena Zupanic, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, D'Amato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwinski, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, Yap, Eric P. H., Yong, Rita Y. Y., Pajnic, Irena Zupanic, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**
Published: 2014

14. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, K. (Kaye), Ralf, A. (Arwin), Aboukhalid, R. (Rachid), Achakzai, N.M. (Niaz), Anjos, T. (Tania), Ayub, Q. (Qasim), Balažic, J. (Jože), Ballantyne, J. (Jack), Ballard, D.J. (David), Berger, B. (Burkhard), Bobillo, C. (Cecilia), Bouabdellah, M. (Mehdi), Burri, H. (Helen), Capal, T. (Tomas), Caratti, S. (Stefano), Cárdenas, J. (Jorge), Cartault, F. (François), Carvalho, E.F. (Elizeu), Carvalho, M. (Margarete) de, Cheng, B. (Baowen), Coble, M.D. (Michael), Comas, D. (David), Corach, D. (Daniel), D'Amato, M. (Mauro), Davison, S. (Sean), Knijff, P. (Peter) de, Ungria, M.C.A. (Maria Corazon) de, Decorte, R. (Ronny), Dobosz, T. (Tadeusz), Dupuy, B.M. (Berit), Elmrghni, S. (Samir), Gliwiński, M. (Mateusz), Gomes, S.C. (Sara), Grol, L. (Laurens), Haas, C. (Cordula), Hanson, E. (Erin), Henke, J. (Jürgen), Henke, L. (Lotte), Herrera-Rodríguez, F. (Fabiola), Hill, C.R. (Carolyn), Holmlund, G. (Gunilla), Honda, K. (Katsuya), Immel, U.-D. (Uta-Dorothee), Inokuchi, S. (Shota), Jobling, R., Kaddura, M. (Mahmoud), Kim, J.S. (Jong), Kim, S.H. (Soon), Kim, W. (Wook), King, T.E. (Turi), Klausriegler, E. (Eva), Kling, D. (Daniel), Kovačević, L. (Lejla), Kovatsi, L. (Leda), Krajewski, P. (Paweł), Kravchenko, S. (Sergey), Larmuseau, M.H.D. (Maarten), Lee, E.Y. (Eun Young), Lessig, R. (Rüdiger), Livshits, L.A. (Ludmila), Marjanović, D. (Damir), Minarik, M. (Marek), Mizuno, N. (Natsuko), Moreira, H. (Helena), Morling, N. (Niels), Mukherjee, M. (Meeta), Munier, P. (Patrick), Nagaraju, J. (Javaregowda), Neuhuber, F. (Franz), Nie, S. (Shengjie), Nilasitsataporn, P. (Premlaphat), Nishi, T. (Takeki), Oh, H.H. (Hye), Olofsson, S. (Sylvia), Onofri, V. (Valerio), Palo, J. (Jukka), Pamjav, H. (Horolma), Parson, W. (Walther), Petlach, M. (Michal), Phillips, C. (Christopher), Ploski, R. (Rafal), Prasad, S.P.R. (Samayamantri P.), Primorac, D. (Dragan), Purnomo, G.A. (Gludhug), Purps, J. (Josephine), Rangel-Villalobos, H. (Hector), Reogonekbała, K. (Krzysztof), Rerkamnuaychoke, B. (Budsaba), Gonzalez, D.R. (Danel Rey), Robino, C. (Carlo), Roewer, L. (Lutz), Rosa, A. (Anna) de, Sajantila, A. (Antti), Sala, A. (Andrea), Salvador, J.M. (Jazelyn), Sanz, P. (Paula), Schmitt, C. (Christian), Sharma, A.K. (Anisha K.), Silva, D.A. (Dayse), Shin, K.-J. (Kyoung-Jin), Sijen, T. (Titia), Sirker, M. (Miriam), Siváková, D. (Daniela), Škaro, V. (Vedrana), Solano-Matamoros, C. (Carlos), Souto, L. (L.), Stenzl, V. (Vlastimil), Sudoyo, H. (Herawati), Syndercombe-Court, D. (Denise), Tagliabracci, A. (Adriano), Taylor, D. (Duncan), Tillmar, A. (Andreas), Tsybovsky, I.S. (Iosif), Tyler-Smith, C. (Chris), Gaag, K. (Kristiaan) van der, Vanek, D. (Daniel), Völgyi, A. (Antónia), Ward, D. (Denise), Willemse, P. (Patricia), Yap, E.P.H. (Eric), Yong, Z-Y. (Ze-Yie), Pajnič, I.Z. (Irena Zupanič), Kayser, M.H. (Manfred), Ballantyne, K. (Kaye), Ralf, A. (Arwin), Aboukhalid, R. (Rachid), Achakzai, N.M. (Niaz), Anjos, T. (Tania), Ayub, Q. (Qasim), Balažic, J. (Jože), Ballantyne, J. (Jack), Ballard, D.J. (David), Berger, B. (Burkhard), Bobillo, C. (Cecilia), Bouabdellah, M. (Mehdi), Burri, H. (Helen), Capal, T. (Tomas), Caratti, S. (Stefano), Cárdenas, J. (Jorge), Cartault, F. (François), Carvalho, E.F. (Elizeu), Carvalho, M. (Margarete) de, Cheng, B. (Baowen), Coble, M.D. (Michael), Comas, D. (David), Corach, D. (Daniel), D'Amato, M. (Mauro), Davison, S. (Sean), Knijff, P. (Peter) de, Ungria, M.C.A. (Maria Corazon) de, Decorte, R. (Ronny), Dobosz, T. (Tadeusz), Dupuy, B.M. (Berit), Elmrghni, S. (Samir), Gliwiński, M. (Mateusz), Gomes, S.C. (Sara), Grol, L. (Laurens), Haas, C. (Cordula), Hanson, E. (Erin), Henke, J. (Jürgen), Henke, L. (Lotte), Herrera-Rodríguez, F. (Fabiola), Hill, C.R. (Carolyn), Holmlund, G. (Gunilla), Honda, K. (Katsuya), Immel, U.-D. (Uta-Dorothee), Inokuchi, S. (Shota), Jobling, R., Kaddura, M. (Mahmoud), Kim, J.S. (Jong), Kim, S.H. (Soon), Kim, W. (Wook), King, T.E. (Turi), Klausriegler, E. (Eva), Kling, D. (Daniel), Kovačević, L. (Lejla), Kovatsi, L. (Leda), Krajewski, P. (Paweł), Kravchenko, S. (Sergey), Larmuseau, M.H.D. (Maarten), Lee, E.Y. (Eun Young), Lessig, R. (Rüdiger), Livshits, L.A. (Ludmila), Marjanović, D. (Damir), Minarik, M. (Marek), Mizuno, N. (Natsuko), Moreira, H. (Helena), Morling, N. (Niels), Mukherjee, M. (Meeta), Munier, P. (Patrick), Nagaraju, J. (Javaregowda), Neuhuber, F. (Franz), Nie, S. (Shengjie), Nilasitsataporn, P. (Premlaphat), Nishi, T. (Takeki), Oh, H.H. (Hye), Olofsson, S. (Sylvia), Onofri, V. (Valerio), Palo, J. (Jukka), Pamjav, H. (Horolma), Parson, W. (Walther), Petlach, M. (Michal), Phillips, C. (Christopher), Ploski, R. (Rafal), Prasad, S.P.R. (Samayamantri P.), Primorac, D. (Dragan), Purnomo, G.A. (Gludhug), Purps, J. (Josephine), Rangel-Villalobos, H. (Hector), Reogonekbała, K. (Krzysztof), Rerkamnuaychoke, B. (Budsaba), Gonzalez, D.R. (Danel Rey), Robino, C. (Carlo), Roewer, L. (Lutz), Rosa, A. (Anna) de, Sajantila, A. (Antti), Sala, A. (Andrea), Salvador, J.M. (Jazelyn), Sanz, P. (Paula), Schmitt, C. (Christian), Sharma, A.K. (Anisha K.), Silva, D.A. (Dayse), Shin, K.-J. (Kyoung-Jin), Sijen, T. (Titia), Sirker, M. (Miriam), Siváková, D. (Daniela), Škaro, V. (Vedrana), Solano-Matamoros, C. (Carlos), Souto, L. (L.), Stenzl, V. (Vlastimil), Sudoyo, H. (Herawati), Syndercombe-Court, D. (Denise), Tagliabracci, A. (Adriano), Taylor, D. (Duncan), Tillmar, A. (Andreas), Tsybovsky, I.S. (Iosif), Tyler-Smith, C. (Chris), Gaag, K. (Kristiaan) van der, Vanek, D. (Daniel), Völgyi, A. (Antónia), Ward, D. (Denise), Willemse, P. (Patricia), Yap, E.P.H. (Eric), Yong, Z-Y. (Ze-Yie), Pajnič, I.Z. (Irena Zupanič), and Kayser, M.H. (Manfred)
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis
Published: 2014
Full Text: View/download PDF

15. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
Published: 2014
Full Text: View/download PDF

16. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, D'Amato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwinski, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, Yap, Eric P. H., Yong, Rita Y. Y., Pajnic, Irena Zupanic, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, D'Amato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwinski, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, Yap, Eric P. H., Yong, Rita Y. Y., Pajnic, Irena Zupanic, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**
Published: 2014

17. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
Published: 2014
Full Text: View/download PDF

18. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, Kayser, Manfred, Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly-mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99919-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 fathers/son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database. This article is protected by copyright. All rights reserved.
Published: 2014

19. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
Published: 2014
Full Text: View/download PDF

20. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author: Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, Kayser, Manfred, Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred
Abstract: Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly-mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99919-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 fathers/son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database. This article is protected by copyright. All rights reserved.
Published: 2014

21. Reactive Planning in Air Combat Simulation

Author: DASSAULT AVIATION SAINT-CLOUD (FRANCE), Degirmenciyan-Cartault, Irene, DASSAULT AVIATION SAINT-CLOUD (FRANCE), and Degirmenciyan-Cartault, Irene
Abstract: In real-world environments such in air combat missions the agents continuously receive perceptual inputs from the environment that is highly dynamic (unpredictable) and uncertain. The aircraft often have to reorganise themselves and to make decisions under time constraints. Two modes of control are thus necessary: planning and reaction. By planning we mean both building a course of action before execution, and reaction as dynamic replanning which interleaves planning and execution. Furthermore, in air combat simulation the plans adopted by the agents in response to external events are known in advance and are not generated by the agents as in other domains. To be reactive, the agents have to choose dynamically the appropriate plans and to coordinate their actions. We present how we take into account new events thanks to dynamic allocation of tasks by means of the graphs of dependencies between agents' activities. Our current work aims to extend this model of tasks and goals by integrating time notions in the selection of action plans and coordinate mechanisms. Operations on plans under time constraints are also examined in order to enable the simultaneous management of several events., See also ADM001519. Presented at the RTO AVT Course on "Intelligent Systems for Aeronautics" held in Rhode-Saint-Genese, Belgium on 13-17 May 2002. Published in RTO-EN-022, p6-1-6-14, 2002. The original document contains color images.
Published: 2003

22. A Multi-Agent Approach for Complex System Design

Author: DASSAULT AVIATION SAINT-CLOUD (FRANCE), Degirmenciyan-Cartault, Irene, DASSAULT AVIATION SAINT-CLOUD (FRANCE), and Degirmenciyan-Cartault, Irene
Abstract: Multi-agent systems that arose from research in Distributed Artificial Intelligence are now considered as a new paradigm to design and model complex systems. The design of complex systems seems to be more intuitive with cognitive agents because the designer works at a high level of abstraction where the agent is an important granularity entity with aspects of calculation, reasoning and control which make it quasi autonomous. After a brief overview of the required notions to understand the multi-agent systems' domain, we describe the JACK agent-oriented environment on top of which we are developing the SCALA environment that provides a multiagent-based methodology and tool for the design of complex systems. In SCALA, the global behaviour (i.e. its goal) of the system is modelled through a functional approach based on the definition of a graph of dependencies between the basic behaviours (i.e. tasks to accomplish to achieve a goal). The definition of this graph provides the necessary knowledge to manage cooperation between the agents and to plan reactively their activities when new events occur and when they have to reorganise themselves., See also ADM001519. Presented at the RTO AVT Course on "Intelligent Systems for Aeronautics" held in Rhode-Saint-Genese, Belgium on 13-17 May 2002. Published in RTO-EN-022, p5-1-5-13, 2002.
Published: 2003

23. La petite colonelle / Marie de Wailly ; [couverture de L. Cartault]

Author: Cartault, L.. Illustrateur, Wailly, Marie de (1880-1964). Auteur du texte, Cartault, L.. Illustrateur, and Wailly, Marie de (1880-1964). Auteur du texte
Abstract: Collection : Mon roman complet illustré ; n° 159, Collection : Mon roman complet illustré ; n° 159, Contient une table des matières, Avec mode texte
Published: 1926

24. L'intellectuel : étude psychologique et morale / par A. Cartault

Author: Cartault, A.. Auteur du texte and Cartault, A.. Auteur du texte
Abstract: Contient une table des matières, Avec mode texte
Published: 1914

25. A propos du 'Corpus tibullianum', un siècle de philologie latine classique / par A. Cartault,...

Author: Cartault, Augustin (1847-1922). Auteur du texte and Cartault, Augustin (1847-1922). Auteur du texte
Abstract: Collection : Université de Paris. Bibliothèque de la Faculté des lettres ; 23, Appartient à l’ensemble documentaire : CentSev001, Contient une table des matières, Avec mode texte
Published: 1906

26. Les sentiments généreux / par A. Cartault

Author: Cartault, A.. Auteur du texte and Cartault, A.. Auteur du texte
Abstract: Collection : Bibliothèque de philosophie contemporaine, Contient une table des matières, Avec mode texte
Published: 1912

27. A propos du 'Corpus tibullianum', un siècle de philologie latine classique / par A. Cartault,...

Author: Cartault, Augustin (1847-1922). Auteur du texte and Cartault, Augustin (1847-1922). Auteur du texte
Abstract: Collection : Université de Paris. Bibliothèque de la Faculté des lettres ; 23, Contient une table des matières, Avec mode texte
Published: 1906

28. Pierre Nolasque, sa vie, son oeuvre / Jeanne Cartault d'Olive

Author: Cartault d'Olive, Jeanne. Auteur du texte and Cartault d'Olive, Jeanne. Auteur du texte
Abstract: Contient une table des matières, Avec mode texte
Published: 1967

29. Les sentiments généreux / par A. Cartault

Author: Cartault, A.. Auteur du texte and Cartault, A.. Auteur du texte
Abstract: Collection : Bibliothèque de philosophie contemporaine, Collection : Bibliothèque de philosophie contemporaine, Contient une table des matières, Avec mode texte
Published: 1912

30. L'art de Virgile dans l'Enéide. Partie 2 / par A. Cartault,...

Author: Cartault, Augustin (1847-1922). Auteur du texte and Cartault, Augustin (1847-1922). Auteur du texte
Abstract: Collection : Université de Paris. Bibliothèque de la Faculté des lettres. 2e série. IV. V ; 2e série, 4-5, Contient une table des matières, Avec mode texte
Published: 1926

31. L'intellectuel : étude psychologique et morale / par A. Cartault

Author: Cartault, A.. Auteur du texte and Cartault, A.. Auteur du texte
Abstract: Contient une table des matières, Avec mode texte
Published: 1914

32. Satires

Author: Cartault, A, trad, Persio Flaco, Aulo, Cartault, A, trad, and Persio Flaco, Aulo
Abstract: Texto en francés y latín, Pag. duplicada
Published: 1929

33. El intelectual : estudio de psicología y ética

Author: Rubio, Juan, trad, Cartault, A, Rubio, Juan, trad, and Cartault, A
Published: 1929

34. Étude sur les Bucoliques de Virgile, par A. Cartault,...

Author: Cartault, Augustin (1847-1922). Auteur du texte and Cartault, Augustin (1847-1922). Auteur du texte
Abstract: Contient une table des matières, Avec mode texte
Published: 1897

35. L'art de Virgile dans l'Enéide. Partie 1 / par A. Cartault,...

Author: Cartault, Augustin (1847-1922). Auteur du texte and Cartault, Augustin (1847-1922). Auteur du texte
Abstract: Collection : Université de Paris. Bibliothèque de la Faculté des lettres. 2e série. IV. V ; 2e série, 4-5, Avec mode texte
Published: 1926

36. La petite colonelle / Marie de Wailly ; [couverture de L. Cartault]

Author: Cartault, L.. Illustrateur, Wailly, Marie de (1880-1964). Auteur du texte, Cartault, L.. Illustrateur, and Wailly, Marie de (1880-1964). Auteur du texte
Abstract: Collection : Mon roman complet illustré ; n° 159, Collection : Mon roman complet illustré ; n° 159, Contient une table des matières, Avec mode texte
Published: 1926

37. Plan du canal de Briare, premier canal à point de partage qui ait existé : la 1re. idée en est due à HenriIV et à Sully / lith. de J. Cartault

Author: Cartault, J.. Lithographe and Cartault, J.. Lithographe
Abstract: Échelle(s) : [1:135 000 ca], 10 000 metr. [= 7,5 cm]

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