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1. South Asian medical cohorts reveal strong founder effects and high rates of homozygosity

Author

Wall, Jeffrey D, Sathirapongsasuti, J Fah, Gupta, Ravi, Rasheed, Asif, Venkatesan, Radha, Belsare, Saurabh, Menon, Ramesh, Phalke, Sameer, Mittal, Anuradha, Fang, John, Tanneeru, Deepak, Deshmukh, Manjari, Bassi, Akshi, Robinson, Jacqueline, Chaudhary, Ruchi, Murugan, Sakthivel, ul-Asar, Zameer, Saleem, Imran, Ishtiaq, Unzila, Fatima, Areej, Sheikh, Saqib Shafi, Hameed, Shahid, Ishaq, Mohammad, Rasheed, Syed Zahed, Memon, Fazal-ur-Rehman, Jalal, Anjum, Abbas, Shahid, Frossard, Philippe, Fuchsberger, Christian, Forer, Lukas, Schoenherr, Sebastian, Bei, Qixin, Bhangale, Tushar, Tom, Jennifer, Gadde, Santosh Gopi Krishna, B V, Priya, Naik, Naveen Kumar, Wang, Minxian, Kwok, Pui-Yan, Khera, Amit V, Lakshmi, BR, Butterworth, Adam S, Chowdhury, Rajiv, Danesh, John, di Angelantonio, Emanuele, Naheed, Aliya, Goyal, Vinay, Kandadai, Rukmini M, Kumar, Hrishikesh, Borgohain, Rupam, Mukherjee, Adreesh, Wadia, Pettarusp M, Yadav, Ravi, Desai, Soaham, Kumar, Niraj, Biswas, Atanu, Pal, Pramod Kumar, Muthane, Uday B, Das, Shymal K, Ramprasad, Vedam L, Kukkle, Prashanth L, Seshagiri, Somasekar, Kathiresan, Sekar, Ghosh, Arkasubhra, Mohan, V, Saleheen, Danish, Stawiski, Eric W, and Peterson, Andrew S

Subjects
Genetics, Biotechnology, Clinical Research, Human Genome, Generic health relevance, Good Health and Well Being, Humans, Asian People, Bangladesh, Founder Effect, Homozygote, India, Pakistan, South Asian People
Abstract

The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies.

Published
2023

4. Copeptin, Natriuretic Peptides, and Cardiovascular Outcomes in Patients With CKD: The German Chronic Kidney Disease (GCKD) Study

Author

Eckardt, Kai-Uwe, Meiselbach, Heike, Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Reis, André, Ekici, Arif B., Becker, Susanne, Becker-Grosspitsch, Dinah, Alberth-Schmidt, Ulrike, Hausknecht, Birgit, Weigel, Anke, Walz, Gerd, Köttgen, Anna, Schultheiß, Ulla T., Kotsis, Fruzsina, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Saritas, Turgay, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Haller, Hermann, Menne, Jan, Zeier, Martin, Sommerer, Claudia, Theilinger, Johanna, Wolf, Gunter, Busch, Martin, Paul, Rainer, Sitter, Thomas, Wanner, Christoph, Krane, Vera, Börner-Klein, Antje, Bauer, Britta, Kronenberg, Florian, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter, Gronwald, Wolfram, Schmid, Matthias, Nadal, Jennifer, Schneider, Markus P., Schultheiss, Ulla T., Friedrich, Nele, and Nauck, Matthias

Published
2023
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5. Differential Prognostic Utility of Adiposity Measures in Chronic Kidney Disease

Author

Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Reis, André, Ekici, Arif B., Becker, Susanne, Becker-Grosspitsch, Dinah, Alberth-Schmidt, Ulrike, Hausknecht, Birgit, Weigel, Anke, Walz, Gerd, Köttgen, Anna, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Haller, Hermann, Zeier, Martin, Sommerer, Claudia, Theilinger, Johanna, Wolf, Gunter, Paul, Rainer, Börner-Klein, Antje, Bauer, Britta, Kronenberg, Florian, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter, Gronwald, Wolfram, Schmid, Matthias, Cejka, Vladimir, Störk, Stefan, Nadal, Jennifer, Sitter, Thomas, Meiselbach, Heike, Busch, Martin, Schneider, Markus P., Saritas, Turgay, Schultheiss, Ulla T., Kotsis, Fruzsina, Wanner, Christoph, Eckardt, Kai-Uwe, and Krane, Vera

Published
2023
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6. Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Author

Nielsen, Jonas B, Rom, Oren, Surakka, Ida, Graham, Sarah E, Zhou, Wei, Roychowdhury, Tanmoy, Fritsche, Lars G, Gagliano Taliun, Sarah A, Sidore, Carlo, Liu, Yuhao, Gabrielsen, Maiken E, Skogholt, Anne Heidi, Wolford, Brooke, Overton, William, Zhao, Ying, Chen, Jin, Zhang, He, Hornsby, Whitney E, Acheampong, Akua, Grooms, Austen, Schaefer, Amanda, Zajac, Gregory JM, Villacorta, Luis, Zhang, Jifeng, Brumpton, Ben, Løset, Mari, Rai, Vivek, Lundegaard, Pia R, Olesen, Morten S, Taylor, Kent D, Palmer, Nicholette D, Chen, Yii-Der, Choi, Seung H, Lubitz, Steven A, Ellinor, Patrick T, Barnes, Kathleen C, Daya, Michelle, Rafaels, Nicholas, Weiss, Scott T, Lasky-Su, Jessica, Tracy, Russell P, Vasan, Ramachandran S, Cupples, L Adrienne, Mathias, Rasika A, Yanek, Lisa R, Becker, Lewis C, Peyser, Patricia A, Bielak, Lawrence F, Smith, Jennifer A, Aslibekyan, Stella, Hidalgo, Bertha A, Arnett, Donna K, Irvin, Marguerite R, Wilson, James G, Musani, Solomon K, Correa, Adolfo, Rich, Stephen S, Guo, Xiuqing, Rotter, Jerome I, Konkle, Barbara A, Johnsen, Jill M, Ashley-Koch, Allison E, Telen, Marilyn J, Sheehan, Vivien A, Blangero, John, Curran, Joanne E, Peralta, Juan M, Montgomery, Courtney, Sheu, Wayne H-H, Chung, Ren-Hua, Schwander, Karen, Nouraie, Seyed M, Gordeuk, Victor R, Zhang, Yingze, Kooperberg, Charles, Reiner, Alexander P, Jackson, Rebecca D, Bleecker, Eugene R, Meyers, Deborah A, Li, Xingnan, Das, Sayantan, Yu, Ketian, LeFaive, Jonathon, Smith, Albert, Blackwell, Tom, Taliun, Daniel, Zollner, Sebastian, Forer, Lukas, Schoenherr, Sebastian, Fuchsberger, Christian, Pandit, Anita, Zawistowski, Matthew, Kheterpal, Sachin, Brummett, Chad M, Natarajan, Pradeep, Schlessinger, David, Lee, Seunggeun, Kang, Hyun Min, Cucca, Francesco, and Holmen, Oddgeir L

Subjects
Liver, Humans, Cardiovascular Diseases, Lipids, Receptors, LDL, Gene Targeting, Gene Silencing, Genome, Human, Biological Specimen Banks, Genome-Wide Association Study, Molecular Targeted Therapy, United Kingdom, Loss of Function Mutation, Phenomics
Abstract

Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide analyses of participants in the HUNT Study in Norway (n = 69,479) to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function. We identify 76 (11 previously unreported) presumed causal protein-altering variants associated with one or more CVD- or liver-related blood traits. Nine of the variants are predicted to result in loss-of-function of the protein. This includes ZNF529:p.K405X, which is associated with decreased low-density-lipoprotein (LDL) cholesterol (P = 1.3 × 10-8) without being associated with liver enzymes or non-fasting blood glucose. Silencing of ZNF529 in human hepatoma cells results in upregulation of LDL receptor and increased LDL uptake in the cells. This suggests that inhibition of ZNF529 or its gene product should be prioritized as a novel candidate drug target for treating dyslipidemia and associated CVD.

Published
2020

7. South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine

Author

Wall, Jeffrey D, Sathirapongsasuti, J Fah, Gupta, Ravi, Barik, Anamitra, Rai, Rajesh Kumar, Rasheed, Asif, Radha, Venkatesan, Belsare, Saurabh, Menon, Ramesh, Phalke, Sameer, Mittal, Anuradha, Fang, John, Tanneeru, Deepak, Robinson, Jacqueline, Chaudhary, Ruchi, Fuchsberger, Christian, Forer, Lukas, Schoenherr, Sebastian, Bei, Qixin, Bhangale, Tushar, Tom, Jennifer, Gadde, Santosh Gopi Krishna, Priya, BV, Naik, Naveen Kumar, Wang, Minxian, Kwok, Pui-Yan, Khera, Amit V, Lakshmi, BR, Butterworth, Adam, Danesh, John, Seshagiri, Sekar, Kathiresan, Sekar, Ghosh, Arkasubhra, Mohan, V, Chowdhury, Abhijit, Saleheen, Danish, Stawiski, Eric, and Peterson, Andrew S

Subjects
Genetics, Biotechnology, Human Genome, Clinical Research, Generic health relevance, Good Health and Well Being
Abstract

AbstractPopulation-scale genetic studies can identify drug targets and allow disease risk to be predicted with resulting benefit for management of individual health risks and system-wide allocation of health care delivery resources. Although population-scale projects are underway in many parts of the world, genetic variation between population groups means that additional projects are warranted. South Asia has a population whose genetics is the least characterized of any of the world’s major populations. Here we describe GenomeAsia studies that characterize population structure in South Asia and that create tools for economical and accurate genotyping at population-scale. Prior work on population structure characterized isolated population groups, the relevance of which to large-scale studies of disease genetics is unclear. For our studies we used whole genome sequence information from 4,807 individuals recruited in the health care delivery systems of Pakistan, India and Bangladesh to ensure relevance to population-scale studies of disease genetics. We combined this with WGS data from 927 individuals from isolated South Asian population groups, and developed a custom SNP array (called SARGAM) that is optimized for future human genetic studies in South Asia. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of homozygosity that approach 100 times that seen in outbred populations. We describe founder effects that increase the power to associate functional variants with disease processes and that make South Asia a uniquely powerful place for population-scale genetic studies.

Published
2020

8. The GenomeAsia 100K Project enables genetic discoveries across Asia

Author

Wall, Jeffrey D, Stawiski, Eric W, Ratan, Aakrosh, Kim, Hie Lim, Kim, Changhoon, Gupta, Ravi, Suryamohan, Kushal, Gusareva, Elena S, Purbojati, Rikky Wenang, Bhangale, Tushar, Stepanov, Vadim, Kharkov, Vladimir, Schroeder, Markus S, Ramprasad, Vedam, Tom, Jennifer, Durinck, Steffen, Bei, Qixin, Li, Jiani, Guillory, Joseph, Phalke, Sameer, Basu, Analabha, Stinson, Jeremy, Nair, Sandhya, Malaichamy, Sivasankar, Biswas, Nidhan K, Chambers, John C, Cheng, Keith C, George, Joyner T, Khor, Seik Soon, Kim, Jong-Il, Cho, Belong, Menon, Ramesh, Sattibabu, Thiramsetti, Bassi, Akshi, Deshmukh, Manjari, Verma, Anjali, Gopalan, Vivek, Shin, Jong-Yeon, Pratapneni, Mahesh, Santhosh, Sam, Tokunaga, Katsushi, Md-Zain, Badrul M, Chan, Kok Gan, Parani, Madasamy, Natarajan, Purushothaman, Hauser, Michael, Allingham, R Rand, Santiago-Turla, Cecilia, Ghosh, Arkasubhra, Gadde, Santosh Gopi Krishna, Fuchsberger, Christian, Forer, Lukas, Schoenherr, Sebastian, Sudoyo, Herawati, Lansing, J Stephen, Friedlaender, Jonathan, Koki, George, Cox, Murray P, Hammer, Michael, Karafet, Tatiana, Ang, Khai C, Mehdi, Syed Q, Radha, Venkatesan, Mohan, Viswanathan, Majumder, Partha P, Seshagiri, Somasekar, Seo, Jeong-Sun, Schuster, Stephan C, and Peterson, Andrew S

Subjects
Human Genome, Genetics, Biotechnology, Alleles, Asian People, Datasets as Topic, Genome, Human, Genome-Wide Association Study, Genotype, Humans, GenomeAsia100K Consortium, General Science & Technology
Abstract

The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world's population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue. Here we describe the pilot phase of the GenomeAsia 100K Project. This includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia. We catalogue genetic variation, population structure, disease associations and founder effects. We also explore the use of this dataset in imputation, to facilitate genetic studies in populations across Asia and worldwide.

Published
2019

10. Immune response after two doses of the BNT162b2 COVID-19 vaccine and risk of SARS-CoV-2 breakthrough infection in Tyrol, Austria: an open-label, observational phase 4 trial

Author

Bánki, Zoltán, Kimpel, Janine, Rössler, Annika, Schäfer, Helena, Falkensammer, Barbara, Bante, David, Krammer, Florian, von Laer, Dorothee, Borena, Wegene, Forer, Lukas, Schönherr, Sebastian, Sacher, Magdalena, Ower, Cornelia, Harthaller, Teresa, Neurauter, Bianca, Hochmuth, Eva, Hoch, Luiza, Huber, Maria, Müllauer, Brigitte, Peer, Evelyn, Raschbichler, Lisa-Maria, Falch, Albert, Embacher-Aichhorn, Sabine, Becker, Kathrin, Seekircher, Lisa, Tschiderer, Lena, Ulmer, Hanno, and Willeit, Peter

Published
2023
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11. Prospective Cohort Study of Soluble Urokinase Plasminogen Activation Receptor and Cardiovascular Events in Patients With CKD

Author

Eckardt, Kai-Uwe, Meiselbach, Heike, Schneider, Markus P., Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Kraska, Detlef, Reis, André, Ekici, Arif B., Becker, Susanne, Alberth-Schmidt, Ulrike, Marschall, Sabine, Schefler, Eugenia, Weigel, Anke, Walz, Gerd, Köttgen, Anna, Schultheiß, Ulla T., Kotsis, Fruzsina, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Saritas, Turgay, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Schmidt-Ott, Kai, Zeier, Martin, Sommerer, Claudia, Aykac, Mehtap, Wolf, Gunter, Busch, Martin, Paul, Rainer, Sitter, Thomas, Wanner, Christoph, Krane, Vera, Börner-Klein, Antje, Bauer, Britta, Kronenberg, Florian, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter, Gronwald, Wolfram, Schmid, Matthias, Nadal, Jennifer, Müller-Krebs, Sandra, Schultheiss, Ulla T., Friedrich, Nele, Nauck, Matthias, Nußhag, Christian, Reiser, Jochen, and Hayek, Salim S.

Published
2023
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12. Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease

Author

Eckardt, Kai-Uwe, Meiselbach, Heike, Schneider, Markus P., Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Reis, André, Ekici, Arif B., Becker, Susanne, Becker-Grosspitsch, Dinah, Alberth-Schmidt, Ulrike, Hausknecht, Birgit, Weigel, Anke, Walz, Gerd, Köttgen, Anna, Schultheiß, Ulla T., Kotsis, Fruzsina, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Saritas, Turgay, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Haller, Hermann, Menne, Jan, Zeier, Martin, Sommerer, Claudia, Theilinger, Johanna, Wolf, Gunter, Busch, Martin, Paul, Rainer, Sitter, Thomas, Wanner, Christoph, Krane, Vera, Börner-Klein, Antje, Bauer, Britta, Kronenberg, Florian, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter, Gronwald, Wolfram, Schmid, Matthias, Nadal, Jennifer, Schachtl-Riess, Johanna F., Kheirkhah, Azin, Grüneis, Rebecca, Di Maio, Silvia, Schoenherr, Sebastian, Streiter, Gertraud, Losso, Jamie Lee, Paulweber, Bernhard, Lamina, Claudia, and Coassin, Stefan

Published
2021
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14. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Author

Ramdas, Shweta, Judd, Jonathan, Graham, Sarah E., Kanoni, Stavroula, Wang, Yuxuan, Surakka, Ida, Wenz, Brandon, Clarke, Shoa L., Chesi, Alessandra, Wells, Andrew, Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J.M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Lee, Wen-Jane, Hsiung, Chao Agnes, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Schönherr, Sebastian, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Le, Phuong, Feitosa, Mary F., Wojczynski, Mary K., Hemerich, Daiane, Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Noah, Tsao L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Emmel, Carina, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Sankareswaran, Alagu, Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R.H.J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Morgan, Anna, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R.B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, He, Karen Y., Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H.H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W.J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Ida Chen, Yii-Der, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D.C., Arnett, Donna K., Walker, Mark, Scott, Laura J., Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N.A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Lu, Fan, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, t Hart, Leen M., Elders, Petra J.M., Rader, Daniel J., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J.F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F.A., Kiemeney, Lambertus, de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., Willems van Dijk, Ko, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Huey-Herng Sheu, Wayne, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K.E., Boomsma, Dorret I., de Geus, Eco J.C., Cupples, L. Adrienne, van Meurs, Joyce B.J., Ikram, Arfan, Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Tuomilehto, Jaakko, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, Y. Eugene, Ho, Yuk-Lam, Lynch, Julie A., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O'Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Struan Grant, Natarajan, Pradeep, Sun, Yan V., Morris, Andrew P., Deloukas, Panos, Peloso, Gina, Assimes, Themistocles L., Willer, Cristen J., Zhu, Xiang, and Brown, Christopher D.

Published
2022
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18. Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex Lipoprotein(a) KIV-2 VNTR

Author

Amstler, Stephan, primary, Streiter, Gertraud, additional, Pfurtscheller, Cathrin, additional, Forer, Lukas, additional, Di Maio, Silvia, additional, Weissensteiner, Hansi, additional, Paulweber, Bernhard, additional, Schoenherr, Sebastian, additional, Kronenberg, Florian, additional, and Coassin, Stefan, additional

Published
2024
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19. Discontinuation versus continuation of renin-angiotensin-system inhibitors in COVID-19 (ACEI-COVID): a prospective, parallel group, randomised, controlled, open-label trial

Author

Bantkowiak, Marcin, Baur, Gabriele, Baylacher, Monika, Beaucamp, Marcel, Berger, Manuel, Besch, Lisa, Brunner, Stefan, Budweiser, Stephan, Bugger, Heiko, Coletti, Raffaele, Dorwarth, Uwe, Egresits, Jozsef, Eiffener, Elodie, Faul, Christian, Finkenstedt, Armin, Gatos, Konstantinos, Gauchel, Nadine, Gindele, Frank, Grander, Wilhelm, Gunschl, Markus, Hartig, Frank, Hecht, Moritz, Heer, Tobias, Heger, Lukas, Hentrich, Marcus, Horvath, Lena, Keta, Dritan, Kiechl, Stefan, Kirchmaier, Rudolf, Klein, Andreas, Klemm, Mathias, Kolesnik, Ewald, König, Andreas, Kossmann, Hans Christian, Kropacek, Jana, Lanser, Lukas, Lother, Achim, Löw, Anja, Mahabadi, Amir-Abbas, Malleier, Stefan, Mayer, Gert, Müller, Christoph, Müller-Wieland, Dirk, Nagel, Bernhard, Neuwirt, Hannes, Olivier, Christoph, Raunegger, Thomas, Reindl, Martin, Reinstadler, Sebastian, Riesinger, Lisa, Schäffner, Michael, Schier, Johannes, Schock, Julia, Schönherr, Peter, Schulz, Martina, Schütz, Thomas, Schwarz, Johannes, Siebermair, Johannes, Siry, Marcus, Spaur, Anna, Sturm, Wolfgang, Tessadri, Kristin, Theurl, Fabian, Theurl, Markus, Thommes, Liz, Tiller, Christina, Toifl, Michael, Totzeck, Matthias, von zur Mühlen, Hedda, Vonderlin, Nadine, Wakili, Reza, Wendtner, Clemens, Wenner, Felix, Wimmert-Roidl, Daniela, Zabernigg, August, Bauer, Axel, Schreinlechner, Michael, Sappler, Nikolay, Dolejsi, Theresa, Tilg, Herbert, Aulinger, Benedikt A, Weiss, Günter, Bellmann-Weiler, Rosa, Adolf, Christian, Wolf, Dominik, Pirklbauer, Markus, Graziadei, Ivo, Gänzer, Hannes, von Bary, Christian, May, Andreas E, Wöll, Ewald, von Scheidt, Wolfgang, Rassaf, Tienush, Duerschmied, Daniel, Brenner, Christoph, Kääb, Stefan, Metzler, Bernhard, Joannidis, Michael, Kain, Hans-Ulrich, Kaiser, Norbert, Schwinger, Robert, Witzenbichler, Bernhard, Alber, Hannes, Straube, Florian, Hartmann, Niels, Achenbach, Stephan, von Bergwelt-Baildon, Michael, von Stülpnagel, Lukas, Schoenherr, Sebastian, Forer, Lukas, Embacher-Aichhorn, Sabine, Mansmann, Ulrich, Rizas, Konstantinos D, and Massberg, Steffen

Published
2021
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20. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Author

Taliun, Daniel, Harris, Daniel N., Kessler, Michael D., Carlson, Jedidiah, Szpiech, Zachary A., Torres, Raul, Taliun, Sarah A. Gagliano, Corvelo, André, Gogarten, Stephanie M., Kang, Hyun Min, Pitsillides, Achilleas N., LeFaive, Jonathon, Lee, Seung-been, Tian, Xiaowen, Browning, Brian L., Das, Sayantan, Emde, Anne-Katrin, Clarke, Wayne E., Loesch, Douglas P., Shetty, Amol C., Blackwell, Thomas W., Smith, Albert V., Wong, Quenna, Liu, Xiaoming, Conomos, Matthew P., Bobo, Dean M., Aguet, François, Albert, Christine, Alonso, Alvaro, Ardlie, Kristin G., Arking, Dan E., Aslibekyan, Stella, Auer, Paul L., Barnard, John, Barr, R. Graham, Barwick, Lucas, Becker, Lewis C., Beer, Rebecca L., Benjamin, Emelia J., Bielak, Lawrence F., Blangero, John, Boehnke, Michael, Bowden, Donald W., Brody, Jennifer A., Burchard, Esteban G., Cade, Brian E., Casella, James F., Chalazan, Brandon, Chasman, Daniel I., Chen, Yii-Der Ida, Cho, Michael H., Choi, Seung Hoan, Chung, Mina K., Clish, Clary B., Correa, Adolfo, Curran, Joanne E., Custer, Brian, Darbar, Dawood, Daya, Michelle, de Andrade, Mariza, DeMeo, Dawn L., Dutcher, Susan K., Ellinor, Patrick T., Emery, Leslie S., Eng, Celeste, Fatkin, Diane, Fingerlin, Tasha, Forer, Lukas, Fornage, Myriam, Franceschini, Nora, Fuchsberger, Christian, Fullerton, Stephanie M., Germer, Soren, Gladwin, Mark T., Gottlieb, Daniel J., Guo, Xiuqing, Hall, Michael E., He, Jiang, Heard-Costa, Nancy L., Heckbert, Susan R., Irvin, Marguerite R., Johnsen, Jill M., Johnson, Andrew D., Kaplan, Robert, Kardia, Sharon L. R., Kelly, Tanika, Kelly, Shannon, Kenny, Eimear E., Kiel, Douglas P., Klemmer, Robert, Konkle, Barbara A., Kooperberg, Charles, Köttgen, Anna, Lange, Leslie A., Lasky-Su, Jessica, Levy, Daniel, Lin, Xihong, Lin, Keng-Han, Liu, Chunyu, Loos, Ruth J. F., Garman, Lori, Gerszten, Robert, Lubitz, Steven A., Lunetta, Kathryn L., Mak, Angel C. Y., Manichaikul, Ani, Manning, Alisa K., Mathias, Rasika A., McManus, David D., McGarvey, Stephen T., Meigs, James B., Meyers, Deborah A., Mikulla, Julie L., Minear, Mollie A., Mitchell, Braxton D., Mohanty, Sanghamitra, Montasser, May E., Montgomery, Courtney, Morrison, Alanna C., Murabito, Joanne M., Natale, Andrea, Natarajan, Pradeep, Nelson, Sarah C., North, Kari E., O’Connell, Jeffrey R., Palmer, Nicholette D., Pankratz, Nathan, Peloso, Gina M., Peyser, Patricia A., Pleiness, Jacob, Post, Wendy S., Psaty, Bruce M., Rao, D. C., Redline, Susan, Reiner, Alexander P., Roden, Dan, Rotter, Jerome I., Ruczinski, Ingo, Sarnowski, Chloé, Schoenherr, Sebastian, Schwartz, David A., Seo, Jeong-Sun, Seshadri, Sudha, Sheehan, Vivien A., Sheu, Wayne H., Shoemaker, M. Benjamin, Smith, Nicholas L., Smith, Jennifer A., Sotoodehnia, Nona, Stilp, Adrienne M., Tang, Weihong, Taylor, Kent D., Telen, Marilyn, Thornton, Timothy A., Tracy, Russell P., Van Den Berg, David J., Vasan, Ramachandran S., Viaud-Martinez, Karine A., Vrieze, Scott, Weeks, Daniel E., Weir, Bruce S., Weiss, Scott T., Weng, Lu-Chen, Willer, Cristen J., Zhang, Yingze, Zhao, Xutong, Arnett, Donna K., Ashley-Koch, Allison E., Barnes, Kathleen C., Boerwinkle, Eric, Gabriel, Stacey, Gibbs, Richard, Rice, Kenneth M., Rich, Stephen S., Silverman, Edwin K., Qasba, Pankaj, Gan, Weiniu, Papanicolaou, George J., Nickerson, Deborah A., Browning, Sharon R., Zody, Michael C., Zöllner, Sebastian, Wilson, James G., Cupples, L. Adrienne, Laurie, Cathy C., Jaquish, Cashell E., Hernandez, Ryan D., O’Connor, Timothy D., and Abecasis, Gonçalo R.

Published
2021
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21. Results from the German Chronic Kidney Disease (GCKD) study support association of relative telomere length with mortality in a large cohort of patients with moderate chronic kidney disease

Author

Eckardt, Kai-Uwe, Meiselbach, Heike, Schneider, Markus, Dienemann, Thomas, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Ganslandt, Thomas, Reis, André, Ekici, Arif B., Avendaño, Susanne, Becker-Grosspitsch, Dinah, Alberth-Schmidt, Ulrike, Hausknecht, Birgit, Zitzmann, Rita, Weigel, Anke, Walz, Gerd, Köttgen, Anna, Schultheiß, Ulla T., Kotsis, Fruzsina, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Schlieper, Georg, Saritas, Turgay, Ernst, Sabine, Beaujean, Nicole, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Haller, Hermann, Menne, Jan, Zeier, Martin, Sommerer, Claudia, Woitke, Rebecca, Wolf, Gunter, Busch, Martin, Fuß, Rainer, Sitter, Thomas, Blank, Claudia, Wanner, Christoph, Krane, Vera, Börner-Klein, Antje, Bauer, Britta, Kronenberg, Florian, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter, Gronwald, Wolfram, Zacharias, Helena, Schmid, Matthias, Nadal, Jennifer, Fazzini, Federica, Lamina, Claudia, Schultheiss, Ulla T., and Steinbrenner, Inga

Published
2020
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23. An Artificial Intelligence Generated Automated Algorithm to Measure Total Kidney Volume in ADPKD

Author

Taylor, Jonathan, primary, Thomas, Richard, additional, Metherall, Peter, additional, van Gastel, Marieke, additional, Cornec-Le Gall, Emilie, additional, Caroli, Anna, additional, Furlano, Monica, additional, Demoulin, Nathalie, additional, Devuyst, Olivier, additional, Winterbottom, Jean, additional, Torra, Roser, additional, Perico, Norberto, additional, Le Meur, Yannick, additional, Schoenherr, Sebastian, additional, Forer, Lukas, additional, Gansevoort, Ron T., additional, Simms, Roslyn J., additional, and Ong, Albert C.M., additional

Published
2023
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28. Corrigendum to “An Artificial Intelligence Generated Automated Algorithm to Measure Total Kidney Volume in ADPKD” [Kidney International Reports Volume 9, Issue 2, February 2024, Pages 249-256]

Author

Taylor, Jonathan, Thomas, Richard, Metherall, Peter, van Gastel, Marieke, Cornec-Le Gall, Emilie, Caroli, Anna, Furlano, Monica, Demoulin, Nathalie, Devuyst, Olivier, Winterbottom, Jean, Torra, Roser, Perico, Norberto, Le Meur, Yannick, Schoenherr, Sebastian, Forer, Lukas, Gansevoort, Ron T., Simms, Roslyn J., and Ong, Albert C.M.

Published
2024
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29. Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease

Author

Schachtl-Riess, Johanna F., Kheirkhah, Azin, Grüneis, Rebecca, Di Maio, Silvia, Schoenherr, Sebastian, Streiter, Gertraud, Losso, Jamie Lee, Paulweber, Bernhard, Eckardt, Kai-Uwe, Köttgen, Anna, Lamina, Claudia, Kronenberg, Florian, Coassin, Stefan, For The GCKD Investigators, Meiselbach, Heike, Schneider, Markus P., Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Reis, André, Ekici, Arif B., Becker, Susanne, Becker-Grosspitsch, Dinah, Alberth-Schmidt, Ulrike, Hausknecht, Birgit, Weigel, Anke, Walz, Gerd, Schultheiß, Ulla T., Kotsis, Fruzsina, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Saritas, Turgay, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Haller, Hermann, Menne, Jan, Zeier, Martin, Sommerer, Claudia, Theilinger, Johanna, Wolf, Gunter, Busch, Martin, Paul, Rainer, Sitter, Thomas, Wanner, Christoph, Krane, Vera, Börner-Klein, Antje, Bauer, Britta, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter J., Gronwald, Wolfram, Schmid, Matthias, and Nadal, Jennifer

Subjects
medicine.medical_specialty, 610 Medizin, Coronary Artery Disease, Mendelian randomization, cardiovascular disease, cohort study, copy number variation, genetic variability, lipoprotein(a), Coronary artery disease, Kringles, Internal medicine, Medicine, Humans, Copy-number variation, Genetic variability, Prospective Studies, Risk factor, ddc:610, biology, business.industry, Genetic Variation, Lipoprotein(a), medicine.disease, biology.protein, Cardiology, lipids (amino acids, peptides, and proteins), biological phenomena, cell phenomena, and immunity, Cardiology and Cardiovascular Medicine, business, Lipoprotein, Cohort study
Abstract

Background: Lipoprotein(a) (Lp(a)) concentrations are a major independent risk factor for coronary artery disease (CAD) and are mainly determined by variation in LPA. Up to 70% of the LPA coding sequence is located in the hypervariable kringle IV type 2 (KIV-2) region. It is hardly accessible by conventional technologies, but may contain functional variants. Objectives: This study sought to investigate the new, very frequent splicing variant KIV-2 4733G>A on Lp(a) and CAD. Methods: We genotyped 4733G>A in the GCKD (German Chronic Kidney Disease) study (n = 4,673) by allele-specific polymerase chain reaction, performed minigene assays, identified proxy single nucleotide polymorphisms and used them to characterize its effect on CAD by survival analysis in UK Biobank (n = 440,234). Frequencies in ethnic groups were assessed in the 1000 Genomes Project. Results: The 4733G>A variant (38.2% carrier frequency) was found in most isoform sizes. It reduces allelic expression without abolishing protein production, lowers Lp(a) by 13.6 mg/dL (95% CI: 12.5-14.7; P < 0.0001) and is the strongest variance-explaining factor after the smaller isoform. Splicing of minigenes was modified. Compound heterozygosity (4.6% of the population) for 4733G>A and 4925G>A, another KIV-2 splicing mutation, reduces Lp(a) by 31.8 mg/dL and most importantly narrows the interquartile range by 9-fold (from 42.1 to 4.6 mg/dL) when compared to the wild type. In UK Biobank 4733G>A alone and compound heterozygosity with 4925G>A reduced HR for CAD by 9% (95% CI: 7%-11%) and 12% (95% CI: 7%-16%) (both P < 0.001). Frequencies in ethnicities differ notably. Conclusions: Functional variants in the previously inaccessible LPA KIV-2 region cooperate in determining Lp(a) variance and CAD risk. Even a moderate but lifelong genetic Lp(a) reduction translates to a noticeable CAD risk reduction.

Published
2021

30. Discontinuation versus continuation of renin-angiotensin-system inhibitors in COVID-19 (ACEI-COVID): a prospective, parallel group, randomised, controlled, open-label trial

Author

Bauer, Axel, primary, Schreinlechner, Michael, additional, Sappler, Nikolay, additional, Dolejsi, Theresa, additional, Tilg, Herbert, additional, Aulinger, Benedikt A, additional, Weiss, Günter, additional, Bellmann-Weiler, Rosa, additional, Adolf, Christian, additional, Wolf, Dominik, additional, Pirklbauer, Markus, additional, Graziadei, Ivo, additional, Gänzer, Hannes, additional, von Bary, Christian, additional, May, Andreas E, additional, Wöll, Ewald, additional, von Scheidt, Wolfgang, additional, Rassaf, Tienush, additional, Duerschmied, Daniel, additional, Brenner, Christoph, additional, Kääb, Stefan, additional, Metzler, Bernhard, additional, Joannidis, Michael, additional, Kain, Hans-Ulrich, additional, Kaiser, Norbert, additional, Schwinger, Robert, additional, Witzenbichler, Bernhard, additional, Alber, Hannes, additional, Straube, Florian, additional, Hartmann, Niels, additional, Achenbach, Stephan, additional, von Bergwelt-Baildon, Michael, additional, von Stülpnagel, Lukas, additional, Schoenherr, Sebastian, additional, Forer, Lukas, additional, Embacher-Aichhorn, Sabine, additional, Mansmann, Ulrich, additional, Rizas, Konstantinos D, additional, Massberg, Steffen, additional, Bantkowiak, Marcin, additional, Baur, Gabriele, additional, Baylacher, Monika, additional, Beaucamp, Marcel, additional, Berger, Manuel, additional, Besch, Lisa, additional, Brunner, Stefan, additional, Budweiser, Stephan, additional, Bugger, Heiko, additional, Coletti, Raffaele, additional, Dorwarth, Uwe, additional, Egresits, Jozsef, additional, Eiffener, Elodie, additional, Faul, Christian, additional, Finkenstedt, Armin, additional, Gatos, Konstantinos, additional, Gauchel, Nadine, additional, Gindele, Frank, additional, Grander, Wilhelm, additional, Gunschl, Markus, additional, Hartig, Frank, additional, Hecht, Moritz, additional, Heer, Tobias, additional, Heger, Lukas, additional, Hentrich, Marcus, additional, Horvath, Lena, additional, Keta, Dritan, additional, Kiechl, Stefan, additional, Kirchmaier, Rudolf, additional, Klein, Andreas, additional, Klemm, Mathias, additional, Kolesnik, Ewald, additional, König, Andreas, additional, Kossmann, Hans Christian, additional, Kropacek, Jana, additional, Lanser, Lukas, additional, Lother, Achim, additional, Löw, Anja, additional, Mahabadi, Amir-Abbas, additional, Malleier, Stefan, additional, Mayer, Gert, additional, Müller, Christoph, additional, Müller-Wieland, Dirk, additional, Nagel, Bernhard, additional, Neuwirt, Hannes, additional, Olivier, Christoph, additional, Raunegger, Thomas, additional, Reindl, Martin, additional, Reinstadler, Sebastian, additional, Riesinger, Lisa, additional, Schäffner, Michael, additional, Schier, Johannes, additional, Schock, Julia, additional, Schönherr, Peter, additional, Schulz, Martina, additional, Schütz, Thomas, additional, Schwarz, Johannes, additional, Siebermair, Johannes, additional, Siry, Marcus, additional, Spaur, Anna, additional, Sturm, Wolfgang, additional, Tessadri, Kristin, additional, Theurl, Fabian, additional, Theurl, Markus, additional, Thommes, Liz, additional, Tiller, Christina, additional, Toifl, Michael, additional, Totzeck, Matthias, additional, von zur Mühlen, Hedda, additional, Vonderlin, Nadine, additional, Wakili, Reza, additional, Wendtner, Clemens, additional, Wenner, Felix, additional, Wimmert-Roidl, Daniela, additional, and Zabernigg, August, additional

Published
2021
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32. Narrow-sense heritability estimation of complex traits using identity-by-descent information

Author

Evans, Luke M., Tahmasbi, Rasool, Jones, Matthew, Vrieze, Scott I., Abecasis, Gonçalo R., Das, Sayantan, Bjelland, Doug W., deCandia, Teresa R., Abecasis, Gonçalo, Altshuler, David, Anderson, Carl A, Angius, Andrea, Barrett, Jeffrey C, Berndt, Sonja, Boehnke, Michael, Boomsma, Dorrett, Branham, Kari, Breen, Gerome, Brummett, Chad M, Busonero, Fabio, Campbell, Harry, Campbell, Peter, Chan, Andrew, Chen, Sai, Chew, Emily, Cocca, Massimiliano, Collins, Francis S, Corbin, Laura J, Cucca, Francesco, Danecek, Petr, de Bakker, Paul I W, Dedoussis, George, Dekker, Annelot, Delaneau, Olivier, Dorr, Marcus, Durbin, Richard, Farmaki, Aliki-Eleni, Ferrucci, Luigi, Forer, Lukas, Fraser, Ross M, Frayling, Timothy, Fuchsberger, Christian, Gabriel, Stacey, Gandin, Ilaria, Gasparini, Paolo, Gillies, Christopher E, Gilly, Arthur, Groop, Leif, Harrison, Tabitha, Hattersley, Andrew, Holmen, Oddgeir L, Hveem, Kristian, Iacono, William, Joshi, Amit, Kang, Hyun Min, Khalili, Hamed, Kooperberg, Charles, Koskinen, Seppo, Kretzler, Matthias, Kretzschmar, Warren, Kwong, Alan, Lee, James C, Levy, Shawn, Luo, Yang, Mahajan, Anubha, Marchini, Jonathan, McCarroll, Steven, McCarthy, Mark I, McCarthy, Shane, McGue, Matt, McInnis, Melvin, Meitinger, Thomas, Melzer, David, Mezzavilla, Massimo, Min, Josine L, Mohlke, Karen L, Myers, Richard M, Nauck, Matthias, Nickerson, Deborah, Palotie, Aarno, Pato, Carlos, Pato, Michele, Peters, Ulrike, Pirastu, Nicola, Rheenen, Wouter Van, Richards, J Brent, Ripatti, Samuli, Sala, Cinzia, Salomaa, Veikko, Sampson, Matthew G, Schlessinger, David, Schoen, Robert E, Schoenherr, Sebastian, Scott, Laura J, Sharp, Kevin, Sidore, Carlo, Slagboom, P Eline, Small, Kerrin, Smith, George Davey, Soranzo, Nicole, Spector, Timothy, Stambolian, Dwight, Swaroop, Anand, Swertz, Morris A, Teumer, Alexander, Timpson, Nicholas, Toniolo, Daniela, Traglia, Michela, Tuke, Marcus, Tuomilehto, Jaakko, den Berg, Leonard H Van, van Duijn, Cornelia M, Veldink, Jan, Vincent, John B, Volker, Uwe, Vrieze, Scott, Walter, Klaudia, Wijmenga, Cisca, Willer, Cristen, Wilson, James F, Wood, Andrew R, Zeggini, Eleftheria, Zhang, He, Yang, Jian, Goddard, Michael E., Visscher, Peter M., and Keller, Matthew C.

Subjects
0301 basic medicine, Genome-wide association study, Biology, Population stratification, Genetic correlation, Polymorphism, Single Nucleotide, Identity by descent, Article, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Missing heritability problem, Genetic variation, Genetics, Chromosomes, Human, Humans, Human height, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Genome, Human, Heritability, Twin study, Minor allele frequency, Phenotype, 030104 developmental biology, Haplotypes, Evolutionary biology, Trait, 030217 neurology & neurosurgery
Abstract

Heritability is a fundamental parameter in genetics. Traditional estimates based on family or twin studies can be biased due to shared environmental or non-additive genetic variance. Alternatively, those based on genotyped or imputed variants typically underestimate narrow-sense heritability contributed by rare or otherwise poorly tagged causal variants. Identical-by-descent (IBD) segments of the genome share all variants between pairs of chromosomes except new mutations that have arisen since the last common ancestor. Therefore, relating phenotypic similarity to degree of IBD sharing among classically unrelated individuals is an appealing approach to estimating the near full additive genetic variance while possibly avoiding biases that can occur when modeling close relatives. We applied an IBD-based approach (GREML-IBD) to estimate heritability in unrelated individuals using phenotypic simulation with thousands of whole-genome sequences across a range of stratification, polygenicity levels, and the minor allele frequencies of causal variants (CVs). In simulations, the IBD-based approach produced unbiased heritability estimates, even when CVs were extremely rare, although precision was low. However, population stratification and non-genetic familial environmental effects shared across generations led to strong biases in IBD-based heritability. We used data on two traits in ~120,000 people from the UK Biobank to demonstrate that, depending on the trait and possible confounding environmental effects, GREML-IBD can be applied to very large genetic datasets to infer the contribution of very rare variants lost using other methods. However, we observed apparent biases in these real data, suggesting that more work may be required to understand and mitigate factors that influence IBD-based heritability estimates.

Published
2018

33. South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine

Author

Wall, Jeffrey D., primary, Sathirapongsasuti, J. Fah, additional, Gupta, Ravi, additional, Barik, Anamitra, additional, Rai, Rajesh Kumar, additional, Rasheed, Asif, additional, Radha, Venkatesan, additional, Belsare, Saurabh, additional, Menon, Ramesh, additional, Phalke, Sameer, additional, Mittal, Anuradha, additional, Fang, John, additional, Tanneeru, Deepak, additional, Robinson, Jacqueline, additional, Chaudhary, Ruchi, additional, Fuchsberger, Christian, additional, Forer, Lukas, additional, Schoenherr, Sebastian, additional, Bei, Qixin, additional, Bhangale, Tushar, additional, Tom, Jennifer, additional, Krishna Gadde, Santosh Gopi, additional, Priya, B. V., additional, Naik, Naveen Kumar, additional, Wang, Minxian, additional, Kwok, Pui-Yan, additional, Khera, Amit V., additional, Lakshmi, B. R., additional, Butterworth, Adam, additional, Danesh, John, additional, Seshagiri, Sekar, additional, Kathiresan, Sekar, additional, Ghosh, Arkasubhra, additional, Mohan, V., additional, Chowdhury, Abhijit, additional, Saleheen, Danish, additional, Stawiski, Eric, additional, and Peterson, Andrew S., additional

Published
2020
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35. South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine

Author

Wall, Jeff D., primary, Sathirapongsasuti, J. Fah, additional, Gupta, Ravi, additional, Barik, Anamitra, additional, Rai, Rajesh Kumar, additional, Rasheed, Asif, additional, Radha, Venkatesan, additional, Belsare, Saurabh, additional, Menon, Ramesh, additional, Phalke, Sameer, additional, Mittal, Anuradha, additional, Fang, John, additional, Tanneeru, Deepak, additional, Deshmukh, Manjari, additional, Bassi, Akshi, additional, Robinson, Jacqueline, additional, Chaudhary, Ruchi, additional, Asar, Zameer-ul, additional, Saleem, Imran, additional, Ishtiaq, Unzila, additional, Fatima, Areej, additional, Sheikh, Saqib Shafi, additional, Hameed, Shahid, additional, Ishaq, Mohammad, additional, Rasheed, Syed Zahed, additional, Memon, Fazal-ur-Rehman, additional, Jalal, Anjum, additional, Abbas, Shahid, additional, Frossard, Philippe, additional, Fuchsberger, Christian, additional, Forer, Lukas, additional, Schoenherr, Sebastian, additional, Bei, Qixin, additional, Bhangale, Tushar, additional, Tom, Jennifer, additional, Gadde, Santosh Gopi Krishna, additional, V., Priya B., additional, Naik, Naveen Kumar, additional, Wang, Minxian, additional, Kwok, Pui-Yan, additional, Khera, Amit V., additional, Lakshmi, B. R., additional, Butterworth, Adam S., additional, Chowdhury, Rajiv, additional, Danesh, John, additional, di Angelantonio, Emanuele, additional, Naheed, Aliya, additional, Seshagiri, Sekar, additional, Kathiresan, Sekar, additional, Ghosh, Arkasubhra, additional, Mohan, V., additional, Chowdhury, Abhijit, additional, Saleheen, Danish, additional, Stawiski, Eric, additional, and Peterson, Andrew S., additional

Published
2020
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36. Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

Author

Nielsen, Jonas B., primary, Rom, Oren, additional, Surakka, Ida, additional, Graham, Sarah E., additional, Zhou, Wei, additional, Fritsche, Lars G., additional, Gagliano Taliun, Sarah A., additional, Sidore, Carlo, additional, Liu, Yuhao, additional, Gabrielsen, Maiken E., additional, Skogholt, Anne Heidi, additional, Wolford, Brooke, additional, Overton, William, additional, Hornsby, Whitney E., additional, Acheampong, Akua, additional, Grooms, Austen, additional, Roychowdhury, Tanmoy, additional, Schaefer, Amanda, additional, Zajac, Gregory JM, additional, Villacorta, Luis, additional, Zhang, Jifeng, additional, Brumpton, Ben, additional, Løset, Mari, additional, Rai, Vivek, additional, Taylor, Kent D., additional, Palmer, Nicholette D., additional, Chen, Yii-Der, additional, Choi, Seung Hoan, additional, Lubitz, Steven A., additional, Ellinor, Patrick T., additional, Barnes, Kathleen C., additional, Daya, Michelle, additional, Rafaels, Nicholas, additional, Weiss, Scott T., additional, Lasky-Su, Jessica, additional, Tracy, Russell P., additional, Vasan, Ramachandran S., additional, Cupples, L. Adrienne, additional, Mathias, Rasika A., additional, Yanek, Lisa R., additional, Becker, Lewis C., additional, Peyser, Patricia A., additional, Bielak, Lawrence F., additional, Smith, Jennifer A., additional, Aslibekyan, Stella, additional, Hildalgo, Bertha A., additional, Arnett, Donna K., additional, Irvin, Marguerite R., additional, Wilson, James G., additional, Musani, Solomon K., additional, Correa, Adolfo, additional, Rich, Stephen S., additional, Guo, Xiuqing, additional, Rotter, Jerome I., additional, Konkle, Barbara A., additional, Johnsen, Jill M., additional, Ashley-Koch, Allison E., additional, Telen, Marilyn J., additional, Sheehan, Vivien A., additional, Blangero, John, additional, Curran, Joanne E., additional, Peralta, Juan M., additional, Montgomery, Courtney, additional, Sheu, Wayne H-H, additional, Chung, Ren-Hua, additional, Schwander, Karen, additional, Nouraie, Seyed M., additional, Gordeuk, Victor R., additional, Zhang, Yingze, additional, Kooperberg, Charles, additional, Reiner, Alexander P., additional, Jackson, Rebecca D., additional, Bleecker, Eugene R., additional, Meyers, Deborah A., additional, Li, Xingnan, additional, Das, Sayantan, additional, Yu, Ketian, additional, LeFaive, Jonathon, additional, Smith, Albert, additional, Blackwell, Tom, additional, Taliun, Daniel, additional, Zollner, Sebastian, additional, Forer, Lukas, additional, Schoenherr, Sebastian, additional, Fuchsberger, Christian, additional, Pandit, Anita, additional, Zawistowski, Matthew, additional, Kheterpal, Sachin, additional, Brummett, Chad M., additional, Natarajan, Pradeep, additional, Schlessinger, David, additional, Lee, Seunggeun, additional, Kang, Hyun Min, additional, Cucca, Francesco, additional, Holmen, Oddgeir L., additional, Åsvold, Bjørn O., additional, Boehnke, Michael, additional, Kathiresan, Sekar, additional, Abecasis, Goncalo, additional, Chen, Y. Eugene, additional, Willer, Cristen J., additional, and Hveem, Kristian, additional

Published
2019
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37. LBP-32-The Natural History of Ferroportin Disease-First Results of the International, Multicenter EASL non-HFE Registry

Author

Schaefer, Benedikt, primary, Viveiros, André, additional, Corradini, Elena, additional, Fiorini, Massimo, additional, Scarlini, Stefania, additional, Rametta, Raffaela, additional, Pelucchi, Sara, additional, Busti, Fabiana, additional, Weissensteiner, Hansi, additional, Schoenherr, Sebastian, additional, Forer, Lukas, additional, Subramaniam, Nathan, additional, Bardou-Jacquet, Edouard, additional, Ryan, John, additional, Loreal, Olivier, additional, Swinkels, Dorine, additional, Sanchez, Mayka, additional, Muckenthaler, Martina, additional, Drakesmith, Alexander, additional, Tilg, Herbert, additional, Weiss, Günter, additional, Theurl, Igor, additional, Kronenberg, Florian, additional, Girelli, Domenico, additional, Piperno, Alberto, additional, Pietrangelo, Antonello, additional, Valenti, Luca, additional, Porto, Graca, additional, and ZOLLER, Heinz, additional

Published
2019
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38. Reference-based phasing using the Haplotype Reference Consortium panel

Author

Loh, Po-Ru, primary, Danecek, Petr, additional, Palamara, Pier Francesco, additional, Fuchsberger, Christian, additional, A Reshef, Yakir, additional, K Finucane, Hilary, additional, Schoenherr, Sebastian, additional, Forer, Lukas, additional, McCarthy, Shane, additional, Abecasis, Goncalo R, additional, Durbin, Richard, additional, and L Price, Alkes, additional

Published
2016
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40. A reference panel of 64,976 haplotypes for genotype imputation

Author

McCarthy, Shane, Das, Sayantan, Kretzschmar, Warren, Delaneau, Olivier, Wood, Andrew R, Teumer, Alexander, Kang, Hyun Min, Fuchsberger, Christian, Danecek, Petr, Sharp, Kevin, Luo, Yang, Sidore, Carlo, Kwong, Alan, Timpson, Nicholas, Koskinen, Seppo, Vrieze, Scott, Scott, Laura J, Zhang, He, Mahajan, Anubha, Veldink, Jan, Peters, Ulrike, Pato, Carlos, van Duijn, Cornelia M, Gillies, Christopher E, Gandin, Ilaria, Mezzavilla, Massimo, Gilly, Arthur, Cocca, Massimiliano, Traglia, Michela, Angius, Andrea, Barrett, Jeffrey C, Boomsma, Dorrett, Branham, Kari, Breen, Gerome, Brummett, Chad M, Busonero, Fabio, Campbell, Harry, Chan, Andrew, Chen, Sai, Chew, Emily, Collins, Francis S, Corbin, Laura J, Smith, George Davey, Dedoussis, George, Dorr, Marcus, Farmaki, Aliki-Eleni, Ferrucci, Luigi, Forer, Lukas, Fraser, Ross M, Gabriel, Stacey, Levy, Shawn, Groop, Leif, Harrison, Tabitha, Hattersley, Andrew, Holmen, Oddgeir L, Hveem, Kristian, Kretzler, Matthias, Lee, James C, McGue, Matt, Meitinger, Thomas, Melzer, David, Min, Josine L, Mohlke, Karen L, Vincent, John B, Nauck, Matthias, Nickerson, Deborah, Palotie, Aarno, Pato, Michele, Pirastu, Nicola, McInnis, Melvin, Richards, J Brent, Sala, Cinzia, Salomaa, Veikko, Schlessinger, David, Schoenherr, Sebastian, Slagboom, P Eline, Small, Kerrin, Spector, Timothy, Stambolian, Dwight, Tuke, Marcus, Tuomilehto, Jaakko, Van den Berg, Leonard H, Van Rheenen, Wouter, Volker, Uwe, Wijmenga, Cisca, Toniolo, Daniela, Zeggini, Eleftheria, Gasparini, Paolo, Sampson, Matthew G, Wilson, James F, Frayling, Timothy, de Bakker, Paul I W, Swertz, Morris A, McCarroll, Steven, Kooperberg, Charles, Dekker, Annelot, Altshuler, David, Willer, Cristen, Iacono, William, Ripatti, Samuli, Soranzo, Nicole, Walter, Klaudia, Swaroop, Anand, Cucca, Francesco, Anderson, Carl A, Myers, Richard M, Boehnke, Michael, McCarthy, Mark I, and Durbin, Richard

Abstract

We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.

Published
2016
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41. Reference-based phasing using the Haplotype Reference Consortium panel

Author

Loh, Po-Ru, Danecek, Petr, Palamara, Pier Francesco, Fuchsberger, Christian, Reshef, Yakir A, Finucane, Hilary K, Schoenherr, Sebastian, Forer, Lukas, McCarthy, Shane, Abecasis, Goncalo R, Durbin, Richard, and Price, Alkes L

Abstract

Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally performed via statistical phasing within a genotyped cohort, an approach that can attain high accuracy in very large cohorts but attains lower accuracy in smaller cohorts. Here, we instead explore the paradigm of reference-based phasing. We introduce a new phasing algorithm, Eagle2, that attains high accuracy across a broad range of cohort sizes by efficiently leveraging information from large external reference panels (such as the Haplotype Reference Consortium, HRC) using a new data structure based on the positional Burrows-Wheeler transform. We demonstrate that Eagle2 attains a ≈20x speedup and ≈10% increase in accuracy compared to reference-based phasing using SHAPEIT2. On European-ancestry samples, Eagle2 with the HRC panel achieves >2x the accuracy of 1000 Genomes-based phasing. Eagle2 is open source and freely available for HRC-based phasing via the Sanger Imputation Service and the Michigan Imputation Server.

Published
2016
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42. A reference panel of 64,976 haplotypes for genotype imputation

Author

Steven A. McCarroll, Gerome Breen, Nicole Soranzo, Sayantan Das, Ilaria Gandin, Lukas Forer, David Schlessinger, Jonathan Marchini, Francesco Cucca, Anand Swaroop, Seppo Koskinen, Aliki-Eleni Farmaki, Alan Kwong, Gonçalo R. Abecasis, Marcus Dörr, Yang Luo, Andrew T. Chan, Andrea Angius, P. Eline Slagboom, Petr Danecek, Cinzia Sala, Ulrike Peters, Marcus A. Tuke, D.I. Boomsma, Jan H. Veldink, Nicholas J. Timpson, Scott I. Vrieze, Aarno Palotie, Matt McGue, Wouter van Rheenen, Melvin G. McInnis, Shawn Levy, George Dedoussis, Richard Durbin, Matthias Kretzler, Ross M. Fraser, C Sidore, David Melzer, Eleftheria Zeggini, Andrew R. Wood, Veikko Salomaa, Oddgeir L. Holmen, Alexander Teumer, Hyun Min Kang, James F. Wilson, Cristen J. Willer, Laura J. Scott, Richard M. Myers, George Davey Smith, Andrew T. Hattersley, Matthias Nauck, Matthew G. Sampson, Christian Fuchsberger, Josine L. Min, Leonard H. van den Berg, Thomas Meitinger, David Altshuler, John B. Vincent, Kevin Sharp, Jaakko Tuomilehto, Daniela Toniolo, Cornelia M. van Duijn, Samuli Ripatti, Stacey Gabriel, Michael Boehnke, Annelot M. Dekker, Francis S. Collins, He Zhang, Klaudia Walter, Deborah A. Nickerson, Nicola Pirastu, Morris A. Swertz, Kari Branham, Luigi Ferrucci, Sai Chen, Fabio Busonero, Paul I.W. de Bakker, Kristian Hveem, Charles Kooperberg, Michela Traglia, Warren W. Kretzschmar, Leif Groop, Tabitha A. Harrison, Sebastian Schoenherr, J. Brent Richards, Uwe Völker, Shane A. McCarthy, Harry Campbell, Massimo Mezzavilla, Chad M. Brummett, Mark I. McCarthy, Tim D. Spector, Dwight Stambolian, Massimiliano Cocca, Emily Y. Chew, Carlos N. Pato, Jeffrey C. Barrett, Christopher E. Gillies, William G. Iacono, Karen L. Mohlke, Olivier Delaneau, Laura J Corbin, Cisca Wijmenga, Anubha Mahajan, Timothy M. Frayling, James Lee, Michele T. Pato, Carl A. Anderson, Arthur Gilly, Kerrin S. Small, Paolo Gasparini, Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, McCarthy, Shane [0000-0002-2715-4187], Das, Sayantan [0000-0001-6346-1590], Kretzschmar, Warren [0000-0002-2575-0807], Durbin, Richard [0000-0002-9130-1006], Apollo - University of Cambridge Repository, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Mccarthy, Shane, Das, Sayantan, Kretzschmar, Warren, Delaneau, Olivier, Wood, Andrew R, Teumer, Alexander, Kang, Hyun Min, Fuchsberger, Christian, Danecek, Petr, Sharp, Kevin, Luo, Yang, Sidore, Carlo, Kwong, Alan, Timpson, Nichola, Koskinen, Seppo, Vrieze, Scott, Scott, Laura J, Zhang, He, Mahajan, Anubha, Veldink, Jan, Peters, Ulrike, Pato, Carlo, van Duijn, Cornelia M, Gillies, Christopher E, Gandin, Ilaria, Mezzavilla, Massimo, Gilly, Arthur, Cocca, Massimiliano, Traglia, Michela, Angius, Andrea, Barrett, Jeffrey C, Boomsma, Dorrett, Branham, Kari, Breen, Gerome, Brummett, Chad M, Busonero, Fabio, Campbell, Harry, Chan, Andrew, Chen, Sai, Chew, Emily, Collins, Francis S, Corbin, Laura J, Smith, George Davey, Dedoussis, George, Dorr, Marcu, Farmaki, Aliki Eleni, Ferrucci, Luigi, Forer, Luka, Fraser, Ross M, Gabriel, Stacey, Levy, Shawn, Groop, Leif, Harrison, Tabitha, Hattersley, Andrew, Holmen, Oddgeir L, Hveem, Kristian, Kretzler, Matthia, Lee, James C, Mcgue, Matt, Meitinger, Thoma, Melzer, David, Min, Josine L, Mohlke, Karen L, Vincent, John B, Nauck, Matthia, Nickerson, Deborah, Palotie, Aarno, Pato, Michele, Pirastu, Nicola, Mcinnis, Melvin, Richards, J. Brent, Sala, Cinzia, Salomaa, Veikko, Schlessinger, David, Schoenherr, Sebastian, Slagboom, P. Eline, Small, Kerrin, Spector, Timothy, Stambolian, Dwight, Tuke, Marcu, Tuomilehto, Jaakko, van den Berg, Leonard H, van Rheenen, Wouter, Volker, Uwe, Wijmenga, Cisca, Toniolo, Daniela, Zeggini, Eleftheria, Gasparini, Paolo, Sampson, Matthew G, Wilson, James F, Frayling, Timothy, de Bakker, Paul I. W, Swertz, Morris A, Mccarroll, Steven, Kooperberg, Charle, Dekker, Annelot, Altshuler, David, Willer, Cristen, Iacono, William, Ripatti, Samuli, Soranzo, Nicole, Walter, Klaudia, Swaroop, Anand, Cucca, Francesco, Anderson, Carl A, Myers, Richard M, Boehnke, Michael, Mccarthy, Mark I, and Durbin, Richard

Subjects
0301 basic medicine, Netherlands Twin Register (NTR), Genotype, Population, Genome-wide association study, Single-nucleotide polymorphism, Computational biology, Biology, Polymorphism, Single Nucleotide, SEQUENCE, Article, 03 medical and health sciences, 0302 clinical medicine, Reference Values, Journal Article, Genetics, Humans, GENOME-WIDE ASSOCIATION, education, Alleles, POPULATION, 030304 developmental biology, Genetic association, Whole genome sequencing, education.field_of_study, Internet, 0303 health sciences, Genotype imputation, Medicine (all), Haplotype, ALSPAC, Minor allele frequency, 030104 developmental biology, Genetic Techniques, Haplotypes, RARE VARIANTS, 030217 neurology & neurosurgery, Imputation (genetics), Genome-Wide Association Study
Abstract

We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1%, a large increase in the number of SNPs tested in association studies and can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.

Published
2015

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