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1. 857 Crypto-Jewish origins revealed in recessive dystrophic epidermolysis bullosa individuals carrying the prevalent c.6527insC mutation associated with sephardic ancestry

Author: Warshauer, E.M., primary, Maier, P., additional, Runfeldt, G., additional, Fuentes, I., additional, Escámez, M., additional, Hellenthal, G., additional, Brown, A., additional, Valinotto, L., additional, Hovnanian, A., additional, Sprecher, E., additional, Skorecki, K., additional, and Roop, D.R., additional
Published: 2023
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2. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Author: Kim, Y, Mendoza-Revilla, J, Chacon-Duque, JC, Fuentes-Guajardo, M, Ormond, L, Wang, K, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera, R, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Rivera, KMB, Nieves-Colon, MA, Gignoux, CR, Wojcik, GL, Moreno-Estrada, A, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Fumagalli, M, Adhikari, K, Ruiz-Linares, A, Hellenthal, G, Kim, Y, Mendoza-Revilla, J, Chacon-Duque, JC, Fuentes-Guajardo, M, Ormond, L, Wang, K, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera, R, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Rivera, KMB, Nieves-Colon, MA, Gignoux, CR, Wojcik, GL, Moreno-Estrada, A, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Fumagalli, M, Adhikari, K, Ruiz-Linares, A, and Hellenthal, G
Abstract: Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.
Published: 2022

3. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Author: Raveane, A, Aneli, S, Montinaro, F, Athanasiadis, G, Barlera, S, Birolo, G, Boncoraglio, G, Di Blasio, A, Di Gaetano, C, Pagani, L, Parolo, S, Paschou, P, Piazza, A, Stamatoyannopoulos, G, Angius, A, Brucato, N, Cucca, F, Hellenthal, G, Mulas, A, Peyret-Guzzon, M, Zoledziewska, M, Baali, A, Bycroft, C, Cherkaoui, M, Chiaroni, J, Di Cristofaro, J, Dina, C, Dugoujon, J, Galan, P, Giemza, J, Kivisild, T, Mazieres, S, Melhaoui, M, Metspalu, M, Myers, S, Pereira, L, Ricaut, F, Brisighelli, F, Cardinali, I, Grugni, V, Lancioni, H, Pascali, V, Torroni, A, Semino, O, Matullo, G, Achilli, A, Olivieri, A, Capelli, C, Raveane A., Aneli S., Montinaro F., Athanasiadis G., Barlera S., Birolo G., Boncoraglio G., Di Blasio A. M., Di Gaetano C., Pagani L., Parolo S., Paschou P., Piazza A., Stamatoyannopoulos G., Angius A., Brucato N., Cucca F., Hellenthal G., Mulas A., Peyret-Guzzon M., Zoledziewska M., Baali A., Bycroft C., Cherkaoui M., Chiaroni J., Di Cristofaro J., Dina C., Dugoujon J. M., Galan P., Giemza J., Kivisild T., Mazieres S., Melhaoui M., Metspalu M., Myers S., Pereira L., Ricaut F. X., Brisighelli F., Cardinali I., Grugni V., Lancioni H., Pascali V. L., Torroni A., Semino O., Matullo G., Achilli A., Olivieri A., Capelli C., Raveane, A, Aneli, S, Montinaro, F, Athanasiadis, G, Barlera, S, Birolo, G, Boncoraglio, G, Di Blasio, A, Di Gaetano, C, Pagani, L, Parolo, S, Paschou, P, Piazza, A, Stamatoyannopoulos, G, Angius, A, Brucato, N, Cucca, F, Hellenthal, G, Mulas, A, Peyret-Guzzon, M, Zoledziewska, M, Baali, A, Bycroft, C, Cherkaoui, M, Chiaroni, J, Di Cristofaro, J, Dina, C, Dugoujon, J, Galan, P, Giemza, J, Kivisild, T, Mazieres, S, Melhaoui, M, Metspalu, M, Myers, S, Pereira, L, Ricaut, F, Brisighelli, F, Cardinali, I, Grugni, V, Lancioni, H, Pascali, V, Torroni, A, Semino, O, Matullo, G, Achilli, A, Olivieri, A, Capelli, C, Raveane A., Aneli S., Montinaro F., Athanasiadis G., Barlera S., Birolo G., Boncoraglio G., Di Blasio A. M., Di Gaetano C., Pagani L., Parolo S., Paschou P., Piazza A., Stamatoyannopoulos G., Angius A., Brucato N., Cucca F., Hellenthal G., Mulas A., Peyret-Guzzon M., Zoledziewska M., Baali A., Bycroft C., Cherkaoui M., Chiaroni J., Di Cristofaro J., Dina C., Dugoujon J. M., Galan P., Giemza J., Kivisild T., Mazieres S., Melhaoui M., Metspalu M., Myers S., Pereira L., Ricaut F. X., Brisighelli F., Cardinali I., Grugni V., Lancioni H., Pascali V. L., Torroni A., Semino O., Matullo G., Achilli A., Olivieri A., and Capelli C.
Abstract: European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.
Published: 2019

4. Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Author: Romagnoni, A., Jegou, S., Van Steen, K., Wainrib, G., Hugot, J. -P., Peyrin-Biroulet, L., Chamaillard, M., Colombel, J. -F., Cottone, M., D'Amato, M., D'Inca, R., Halfvarson, J., Henderson, P., Karban, A., Kennedy, N. A., Khan, M. A., Lemann, M., Levine, A., Massey, D., Milla, M., S. M. E., Ng, Oikonomou, I., Peeters, H., Proctor, D. D., Rahier, J. -F., Rutgeerts, P., Seibold, F., Stronati, L., Taylor, K. M., Torkvist, L., Ublick, K., Van Limbergen, J., Van Gossum, A., Vatn, M. H., Zhang, H., Zhang, W., Andrews, J. M., Bampton, P. A., Barclay, M., Florin, T. H., Gearry, R., Krishnaprasad, K., Lawrance, I. C., Mahy, G., Montgomery, G. W., Radford-Smith, G., Roberts, R. L., Simms, L. A., Hanigan, K., Croft, A., Amininijad, L., Cleynen, I., Dewit, O., Franchimont, D., Georges, M., Laukens, D., Theatre, E., Vermeire, S., Aumais, G., Baidoo, L., Barrie, A. M., Beck, K., Bernard, E. -J., Binion, D. G., Bitton, A., Brant, S. R., Cho, J. H., Cohen, A., Croitoru, K., Daly, M. J., Datta, L. W., Deslandres, C., Duerr, R. H., Dutridge, D., Ferguson, J., Fultz, J., Goyette, P., Greenberg, G. R., Haritunians, T., Jobin, G., Katz, S., Lahaie, R. G., Mcgovern, D. P., Nelson, L., S. M., Ng, Ning, K., Pare, P., Regueiro, M. D., Rioux, J. D., Ruggiero, E., Schumm, L. P., Schwartz, M., Scott, R., Sharma, Y., Silverberg, M. S., Spears, D., Steinhart, A. H., Stempak, J. M., Swoger, J. M., Tsagarelis, C., Zhang, C., Zhao, H., Aerts, J., Ahmad, T., Arbury, H., Attwood, A., Auton, A., Ball, S. G., Balmforth, A. J., Barnes, C., Barrett, J. C., Barroso, I., Barton, A., Bennett, A. J., Bhaskar, S., Blaszczyk, K., Bowes, J., Brand, O. J., Braund, P. S., Bredin, F., Breen, G., Brown, M. J., Bruce, I. N., Bull, J., Burren, O. S., Burton, J., Byrnes, J., Caesar, S., Cardin, N., Clee, C. M., Coffey, A. J., MC Connell, J., Conrad, D. F., Cooper, J. D., Dominiczak, A. F., Downes, K., Drummond, H. E., Dudakia, D., Dunham, A., Ebbs, B., Eccles, D., Edkins, S., Edwards, C., Elliot, A., Emery, P., Evans, D. M., Evans, G., Eyre, S., Farmer, A., Ferrier, I. N., Flynn, E., Forbes, A., Forty, L., Franklyn, J. A., Frayling, T. M., Freathy, R. M., Giannoulatou, E., Gibbs, P., Gilbert, P., Gordon-Smith, K., Gray, E., Green, E., Groves, C. J., Grozeva, D., Gwilliam, R., Hall, A., Hammond, N., Hardy, M., Harrison, P., Hassanali, N., Hebaishi, H., Hines, S., Hinks, A., Hitman, G. A., Hocking, L., Holmes, C., Howard, E., Howard, P., Howson, J. M. M., Hughes, D., Hunt, S., Isaacs, J. D., Jain, M., Jewell, D. P., Johnson, T., Jolley, J. D., Jones, I. R., Jones, L. A., Kirov, G., Langford, C. F., Lango-Allen, H., Lathrop, G. M., Lee, J., Lee, K. L., Lees, C., Lewis, K., Lindgren, C. M., Maisuria-Armer, M., Maller, J., Mansfield, J., Marchini, J. L., Martin, P., Massey, D. C., Mcardle, W. L., Mcguffin, P., Mclay, K. E., Mcvean, G., Mentzer, A., Mimmack, M. L., Morgan, A. E., Morris, A. P., Mowat, C., Munroe, P. B., Myers, S., Newman, W., Nimmo, E. R., O'Donovan, M. C., Onipinla, A., Ovington, N. R., Owen, M. J., Palin, K., Palotie, A., Parnell, K., Pearson, R., Pernet, D., Perry, J. R., Phillips, A., Plagnol, V., Prescott, N. J., Prokopenko, I., Quail, M. A., Rafelt, S., Rayner, N. W., Reid, D. M., Renwick, A., Ring, S. M., Robertson, N., Robson, S., Russell, E., Clair, D. S., Sambrook, J. G., Sanderson, J. D., Sawcer, S. J., Schuilenburg, H., Scott, C. E., Seal, S., Shaw-Hawkins, S., Shields, B. M., Simmonds, M. J., Smyth, D. J., Somaskantharajah, E., Spanova, K., Steer, S., Stephens, J., Stevens, H. E., Stirrups, K., Stone, M. A., Strachan, D. P., Su, Z., Symmons, D. P. M., Thompson, J. R., Thomson, W., Tobin, M. D., Travers, M. E., Turnbull, C., Vukcevic, D., Wain, L. V., Walker, M., Walker, N. M., Wallace, C., Warren-Perry, M., Watkins, N. A., Webster, J., Weedon, M. N., Wilson, A. G., Woodburn, M., Wordsworth, B. P., Yau, C., Young, A. H., Zeggini, E., Brown, M. A., Burton, P. R., Caulfield, M. J., Compston, A., Farrall, M., Gough, S. C. L., Hall, A. S., Hattersley, A. T., Hill, A. V. S., Mathew, C. G., Pembrey, M., Satsangi, J., Stratton, M. R., Worthington, J., Hurles, M. E., Duncanson, A., Ouwehand, W. H., Parkes, M., Rahman, N., Todd, J. A., Samani, N. J., Kwiatkowski, D. P., Mccarthy, M. I., Craddock, N., Deloukas, P., Donnelly, P., Blackwell, J. M., Bramon, E., Casas, J. P., Corvin, A., Jankowski, J., Markus, H. S., Palmer, C. N., Plomin, R., Rautanen, A., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Pirinen, M., Strange, A., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Jayakumar, A., Mccann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Romagnoni, A., Jegou, S., Van Steen, K., Wainrib, G., Hugot, J. -P., Peyrin-Biroulet, L., Chamaillard, M., Colombel, J. -F., Cottone, M., D'Amato, M., D'Inca, R., Halfvarson, J., Henderson, P., Karban, A., Kennedy, N. A., Khan, M. A., Lemann, M., Levine, A., Massey, D., Milla, M., Ng, S. M. E., Oikonomou, I., Peeters, H., Proctor, D. D., Rahier, J. -F., Rutgeerts, P., Seibold, F., Stronati, L., Taylor, K. M., Torkvist, L., Ublick, K., Van Limbergen, J., Van Gossum, A., Vatn, M. H., Zhang, H., Zhang, W., Andrews, J. M., Bampton, P. A., Barclay, M., Florin, T. H., Gearry, R., Krishnaprasad, K., Lawrance, I. C., Mahy, G., Montgomery, G. W., Radford-Smith, G., Roberts, R. L., Simms, L. A., Hanigan, K., Croft, A., Amininijad, L., Cleynen, I., Dewit, O., Franchimont, D., Georges, M., Laukens, D., Theatre, E., Vermeire, S., Aumais, G., Baidoo, L., Barrie, A. M., Beck, K., Bernard, E. -J., Binion, D. G., Bitton, A., Brant, S. R., Cho, J. H., Cohen, A., Croitoru, K., Daly, M. J., Datta, L. W., Deslandres, C., Duerr, R. H., Dutridge, D., Ferguson, J., Fultz, J., Goyette, P., Greenberg, G. R., Haritunians, T., Jobin, G., Katz, S., Lahaie, R. G., Mcgovern, D. P., Nelson, L., Ng, S. M., Ning, K., Pare, P., Regueiro, M. D., Rioux, J. D., Ruggiero, E., Schumm, L. P., Schwartz, M., Scott, R., Sharma, Y., Silverberg, M. S., Spears, D., Steinhart, A. H., Stempak, J. M., Swoger, J. M., Tsagarelis, C., Zhang, C., Zhao, H., Aerts, J., Ahmad, T., Arbury, H., Attwood, A., Auton, A., Ball, S. G., Balmforth, A. J., Barnes, C., Barrett, J. C., Barroso, I., Barton, A., Bennett, A. J., Bhaskar, S., Blaszczyk, K., Bowes, J., Brand, O. J., Braund, P. S., Bredin, F., Breen, G., Brown, M. J., Bruce, I. N., Bull, J., Burren, O. S., Burton, J., Byrnes, J., Caesar, S., Cardin, N., Clee, C. M., Coffey, A. J., MC Connell, J., Conrad, D. F., Cooper, J. D., Dominiczak, A. F., Downes, K., Drummond, H. E., Dudakia, D., Dunham, A., Ebbs, B., Eccles, D., Edkins, S., Edwards, C., Elliot, A., Emery, P., Evans, D. M., Evans, G., Eyre, S., Farmer, A., Ferrier, I. N., Flynn, E., Forbes, A., Forty, L., Franklyn, J. A., Frayling, T. M., Freathy, R. M., Giannoulatou, E., Gibbs, P., Gilbert, P., Gordon-Smith, K., Gray, E., Green, E., Groves, C. J., Grozeva, D., Gwilliam, R., Hall, A., Hammond, N., Hardy, M., Harrison, P., Hassanali, N., Hebaishi, H., Hines, S., Hinks, A., Hitman, G. A., Hocking, L., Holmes, C., Howard, E., Howard, P., Howson, J. M. M., Hughes, D., Hunt, S., Isaacs, J. D., Jain, M., Jewell, D. P., Johnson, T., Jolley, J. D., Jones, I. R., Jones, L. A., Kirov, G., Langford, C. F., Lango-Allen, H., Lathrop, G. M., Lee, J., Lee, K. L., Lees, C., Lewis, K., Lindgren, C. M., Maisuria-Armer, M., Maller, J., Mansfield, J., Marchini, J. L., Martin, P., Massey, D. C., Mcardle, W. L., Mcguffin, P., Mclay, K. E., Mcvean, G., Mentzer, A., Mimmack, M. L., Morgan, A. E., Morris, A. P., Mowat, C., Munroe, P. B., Myers, S., Newman, W., Nimmo, E. R., O'Donovan, M. C., Onipinla, A., Ovington, N. R., Owen, M. J., Palin, K., Palotie, A., Parnell, K., Pearson, R., Pernet, D., Perry, J. R., Phillips, A., Plagnol, V., Prescott, N. J., Prokopenko, I., Quail, M. A., Rafelt, S., Rayner, N. W., Reid, D. M., Renwick, A., Ring, S. M., Robertson, N., Robson, S., Russell, E., Clair, D. S., Sambrook, J. G., Sanderson, J. D., Sawcer, S. J., Schuilenburg, H., Scott, C. E., Seal, S., Shaw-Hawkins, S., Shields, B. M., Simmonds, M. J., Smyth, D. J., Somaskantharajah, E., Spanova, K., Steer, S., Stephens, J., Stevens, H. E., Stirrups, K., Stone, M. A., Strachan, D. P., Su, Z., Symmons, D. P. M., Thompson, J. R., Thomson, W., Tobin, M. D., Travers, M. E., Turnbull, C., Vukcevic, D., Wain, L. V., Walker, M., Walker, N. M., Wallace, C., Warren-Perry, M., Watkins, N. A., Webster, J., Weedon, M. N., Wilson, A. G., Woodburn, M., Wordsworth, B. P., Yau, C., Young, A. H., Zeggini, E., Brown, M. A., Burton, P. R., Caulfield, M. J., Compston, A., Farrall, M., Gough, S. C. L., Hall, A. S., Hattersley, A. T., Hill, A. V. S., Mathew, C. G., Pembrey, M., Satsangi, J., Stratton, M. R., Worthington, J., Hurles, M. E., Duncanson, A., Ouwehand, W. H., Parkes, M., Rahman, N., Todd, J. A., Samani, N. J., Kwiatkowski, D. P., Mccarthy, M. I., Craddock, N., Deloukas, P., Donnelly, P., Blackwell, J. M., Bramon, E., Casas, J. P., Corvin, A., Jankowski, J., Markus, H. S., Palmer, C. N., Plomin, R., Rautanen, A., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Pirinen, M., Strange, A., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Jayakumar, A., Mccann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Daly, Mark J. [0000-0002-0949-8752], Apollo - University of Cambridge Repository, Hugot, Jean-Pierre [0000-0002-8446-6056], UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - (MGD) Service de gastro-entérologie, Romagnoni, A, Jegou, S, VAN STEEN, Kristel, Wainrib, G, Hugot, JP, Peyrin-Biroulet, L, Chamaillard, M, Colombel, JF, Cottone, M, D'Amato, M, D'Inca, R, Halfvarson, J, Henderson, P, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Ng, SME, Oikonomou, I, Peeters, H, Proctor, DD, Rahier, JF, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Andrews, JM, Bampton, PA, Barclay, M, Florin, TH, Gearry, R, Krishnaprasad, K, Lawrance, IC, Mahy, G, Montgomery, GW, Radford-Smith, G, Roberts, RL, Simms, LA, Hanigan, K, Croft, A, Amininijad, L, Cleynen, I, Dewit, O, Franchimont, D, Georges, M, Laukens, D, Theatre, E, Vermeire, S, Aumais, G, Baidoo, L, Barrie, AM, Beck, K, Bernard, EJ, Binion, DG, Bitton, A, Brant, SR, Cho, JH, Cohen, A, Croitoru, K, Daly, MJ, Datta, LW, Deslandres, C, Duerr, RH, Dutridge, D, Ferguson, J, Fultz, J, Goyette, P, Greenberg, GR, Haritunians, T, Jobin, G, Katz, S, Lahaie, RG, McGovern, DP, Nelson, L, Ng, SM, Ning, K, Pare, P, Regueiro, MD, Rioux, JD, Ruggiero, E, Schumm, LP, Schwartz, M, Scott, R, Sharma, Y, Silverberg, MS, Spears, D, Steinhart, AH, Stempak, JM, Swoger, JM, Tsagarelis, C, Zhang, C, Zhao, HY, AERTS, Jan, Ahmad, T, Arbury, H, Attwood, A, Auton, A, Ball, SG, Balmforth, AJ, Barnes, C, Barrett, JC, Barroso, I, Barton, A, Bennett, AJ, Bhaskar, S, Blaszczyk, K, Bowes, J, Brand, OJ, Braund, PS, Bredin, F, Breen, G, Brown, MJ, Bruce, IN, Bull, J, Burren, OS, Burton, J, Byrnes, J, Caesar, S, Cardin, N, Clee, CM, Coffey, AJ, Mc Connell, J, Conrad, DF, Cooper, JD, Dominiczak, AF, Downes, K, Drummond, HE, Dudakia, D, Dunham, A, Ebbs, B, Eccles, D, Edkins, S, Edwards, C, Elliot, A, Emery, P, Evans, DM, Evans, G, Eyre, S, Farmer, A, Ferrier, IN, Flynn, E, Forbes, A, Forty, L, Franklyn, JA, Frayling, TM, Freathy, RM, Giannoulatou, E, Gibbs, P, Gilbert, P, Gordon-Smith, K, Gray, E, Green, E, Groves, CJ, Grozeva, D, Gwilliam, R, Hall, A, Hammond, N, Hardy, M, Harrison, P, Hassanali, N, Hebaishi, H, Hines, S, Hinks, A, Hitman, GA, Hocking, L, Holmes, C, Howard, E, Howard, P, Howson, JMM, Hughes, D, Hunt, S, Isaacs, JD, Jain, M, Jewell, DP, Johnson, T, Jolley, JD, Jones, IR, Jones, LA, Kirov, G, Langford, CF, Lango-Allen, H, Lathrop, GM, Lee, J, Lee, KL, Lees, C, Lewis, K, Lindgren, CM, Maisuria-Armer, M, Maller, J, Mansfield, J, Marchini, JL, Martin, P, Massey, DCO, McArdle, WL, McGuffin, P, McLay, KE, McVean, G, Mentzer, A, Mimmack, ML, Morgan, AE, Morris, AP, Mowat, C, Munroe, PB, Myers, S, Newman, W, Nimmo, ER, O'Donovan, MC, Onipinla, A, Ovington, NR, Owen, MJ, Palin, K, Palotie, A, Parnell, K, Pearson, R, Pernet, D, Perry, JRB, Phillips, A, Plagnol, V, Prescott, NJ, Prokopenko, I, Quail, MA, Rafelt, S, Rayner, NW, Reid, DM, Renwick, A, Ring, SM, Robertson, N, Robson, S, Russell, E, St Clair, D, Sambrook, JG, Sanderson, JD, Sawcer, SJ, Schuilenburg, H, Scott, CE, Seal, S, Shaw-Hawkins, S, Shields, BM, Simmonds, MJ, Smyth, DJ, Somaskantharajah, E, Spanova, K, Steer, S, Stephens, J, Stevens, HE, Stirrups, K, Stone, MA, Strachan, DP, Su, Z, Symmons, DPM, Thompson, JR, Thomson, W, Tobin, MD, Travers, ME, Turnbull, C, Vukcevic, D, Wain, LV, Walker, M, Walker, NM, Wallace, C, Warren-Perry, M, Watkins, NA, Webster, J, Weedon, MN, Wilson, AG, Woodburn, M, Wordsworth, BP, Yau, C, Young, AH, Zeggini, E, Brown, MA, Burton, PR, Caulfield, MJ, Compston, A, Farrall, M, Gough, SCL, Hall, AS, Hattersley, AT, Hill, AVS, Mathew, CG, Pembrey, M, Satsangi, J, Stratton, MR, Worthington, J, Hurles, ME, Duncanson, A, Ouwehand, WH, Parkes, M, Rahman, N, Todd, JA, Samani, NJ, Kwiatkowski, DP, McCarthy, MI, Craddock, N, Deloukas, P, Donnelly, P, Blackwell, JM, Bramon, E, Casas, JP, Corvin, A, Jankowski, J, Markus, HS, Palmer, CNA, Plomin, R, Rautanen, A, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Pirinen, M, Strange, A, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, and Kwiatkowski, D
Subjects: Male, 692/4020/1503/257/1402, Genotype, Genotyping Techniques, LOCI, 45/43, lcsh:Medicine, Polymorphism, Single Nucleotide, Crohn's disease, genetics, genome wide association, Article, Deep Learning, Crohn Disease, INDEL Mutation, Genetics research, Humans, genetics, Genetic Predisposition to Disease, 129, lcsh:Science, Alleles, Science & Technology, genome wide association, RISK PREDICTION, 45, Models, Genetic, lcsh:R, Decision Trees, 692/308/2056, ASSOCIATION, Multidisciplinary Sciences, Crohn's disease, Logistic Models, Nonlinear Dynamics, ROC Curve, Area Under Curve, Science & Technology - Other Topics, lcsh:Q, Female, Neural Networks, Computer, INFLAMMATORY-BOWEL-DISEASE, Genome-Wide Association Study
Abstract: Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers. Tis work was supported by Fondation pour la Recherche Médical (ref DEI20151234405) and Investissements d’Avenir programme ANR-11-IDEX-0005-02, Sorbonne Paris Cite, Laboratoire d’excellence INFLAMEX. Te authors thank the students that participated to the wisdom of the crowd exercise.
Published: 2019

5. Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Author: Patsopoulos, NA, Baranzini, SE, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, AH, James, T, Replogle, J, Vlachos, IS, McCabe, C, Pers, TH, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, IP, Robbins, A, Andlauer, TFM, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, CM, Luessi, F, Muhlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, MD, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, MA, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, SD, Celius, EG, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, IL, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, SJ, Calabresi, P, Cree, BAC, Cross, A, Davis, M, de Bakker, PWI, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, IY, Gourraud, PA, Haines, JL, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, MH, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, CP, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, MA, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, RJ, Lechner-Scott, J, Leal, R, Moscato, P, Booth, DR, Stewart, GJ, Vucic, S, Pame, G, BamettO, M, Mason, D, GriffithS, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, BV, Charlesworth, J, Kilpatrick, TJ, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, WM, Kermode, AG, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, JF, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, JP, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, GW, Ng, SME, Oikonomnou, J, Peeters, H, Proctor, DD, Rahier, JF, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, DA, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, HF, Hauser, SL, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, LF, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, McCauley, JL, Oksenberg, JR, Oturai, A, Sawcer, S, Ivinson, AJ, Olsson, T, De Jager, PL, Patsopoulos, Na, Baranzini, Se, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, Ah, James, T, Replogle, J, Vlachos, I, Mccabe, C, Pers, Th, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, Ip, Robbins, A, Andlauer, Tfm, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, Hb, Sellebjerg, F, Sorensen, P, Ullum, H, Thorner, Lw, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, Cm, Luessi, F, Muhlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, Md, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, Ma, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, Sd, Celius, Eg, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, Il, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, Sj, Calabresi, P, Cree, Bac, Cross, A, Davis, M, de Bakker, Pwi, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, Iy, Gourraud, Pa, Haines, Jl, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, Mh, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, Cp, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, Ma, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, Rj, Lechner-Scott, J, Leal, R, Moscato, P, Booth, Dr, Stewart, Gj, Vucic, S, Pame, G, Bametto, M, Mason, D, Griffiths, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, Bv, Charlesworth, J, Kilpatrick, Tj, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, Wm, Kermode, Ag, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, Jf, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, Jp, Karban, A, Kennedy, Na, Khan, Ma, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, Gw, Ng, Sme, Oikonomnou, J, Peeters, H, Proctor, Dd, Rahier, Jf, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, Km, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, Mh, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, Jm, Bramon, E, Brown, Ma, Casas, Jp, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, H, Mathew, Cg, Palmer, Cna, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cca, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, Da, Langford, C, Hunt, Se, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, Hf, Hauser, Sl, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, Lf, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, Mccauley, Jl, Oksenberg, Jr, Oturai, A, Sawcer, S, Ivinson, Aj, Olsson, T, De Jager, Pl, Neurology, and Immunology
Subjects: 0301 basic medicine, Multiple Sclerosis, Quantitative Trait Loci, Inheritance Patterns, Cell Cycle Proteins, Genome-wide association study, Biology, Major histocompatibility complex, Polymorphism, Single Nucleotide, Major Histocompatibility Complex, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Immune system, Gene Frequency, Autoimmune Process, medicine, Humans, RNA-Seq, X chromosome, Genetics, Chromosomes, Human, X, Multidisciplinary, Microglia, Multiple sclerosis, GTPase-Activating Proteins, Chromosome Mapping, Genomics, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Genetic Loci, Case-Control Studies, biology.protein, Genome-Wide Association Study, 030217 neurology & neurosurgery
Abstract: Genetic roots of multiple sclerosis The genetics underlying who develops multiple sclerosis (MS) have been difficult to work out. Examining more than 47,000 cases and 68,000 controls with multiple genome-wide association studies, the International Multiple Sclerosis Genetics Consortium identified more than 200 risk loci in MS (see the Perspective by Briggs). Focusing on the best candidate genes, including a model of the major histocompatibility complex region, the authors identified statistically independent effects at the genome level. Gene expression studies detected that every major immune cell type is enriched for MS susceptibility genes and that MS risk variants are enriched in brain-resident immune cells, especially microglia. Up to 48% of the genetic contribution of MS can be explained through this analysis. Science , this issue p. eaav7188 ; see also p. 1383
Published: 2019

6. Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Author: Iglesias, AI, Mishra, A, Vitart, V, Bykhovskaya, Y, Hoehn, R, Springelkamp, H, Cuellar-Partida, G, Gharahkhani, P, Bailey, JNC, Willoughby, CE, Li, X, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, van Leeuwen, EM, Taylor, KD, Bonnemaijer, P, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Souzeau, E, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SEM, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, AG, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, CCW, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, C-Y, Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP, van Duijn, CM, MacGregor, S, Wang, JJ, Rochtchina, E, Attia, J, Scott, R, Holliday, EG, Baird, PN, Xie, J, Inouye, M, Viswanathan, A, Sim, X, Allingham, RR, Brilliant, MH, Budenz, DL, Christen, WG, Fingert, J, Friedman, DS, Gaasterland, D, Gaasterland, T, Hauser, MA, Kraft, P, Lee, RK, Lichter, PR, Liu, Y, Loomis, SJ, Moroi, SE, Pericak-Vance, MA, Realini, A, Richards, JE, Schuman, JS, Scott, WK, Singh, K, Sit, AJ, Vollrath, D, Weinreb, RN, Wollstein, G, Zack, DJ, Zhang, K, Donnelly, P, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Grp, BMES-G, Consortium, N, and Control, WTC
Subjects: Lumican, genetic structures, Fibrillin-1, General Physics and Astronomy, Gene Expression, Q1, Corneal Diseases, Marfan Syndrome, Cornea, ADAMTS Proteins, Myopia, Link (knot theory), lcsh:Science, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Corneal Dystrophies, Hereditary, Multidisciplinary, Eye Diseases, Hereditary, symbols, NEIGHBORHOOD consortium, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Proteoglycans, Decorin, Glaucoma, Open-Angle, Science, Quantitative Trait Loci, Computational biology, Biology, Keratoconus, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, White People, Article, symbols.namesake, Transforming Growth Factor beta2, Quantitative Trait, Heritable, Asian People, Genome-Wide Association Analysis, Humans, Author Correction, Eye Disease and Disorders of Vision, Loeys-Dietz Syndrome, Genome, Human, Wellcome Trust Case Control Consortium 2, Blue Mountains Eye Study - GWAS group, General Chemistry, Mendelian Randomization Analysis, R1, eye diseases, Mendelian inheritance, Ehlers-Danlos Syndrome, lcsh:Q, sense organs, Genome-Wide Association Study
Abstract: Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = −0.62, P = 5.30 × 10−5) but not between CCT and primary open-angle glaucoma (r = −0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation., Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.
Published: 2019

7. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

Author: Harold, D, Connolly, S, Riley, BP, Kendler, KS, McCarthy, SE, McCombie, WR, Richards, A, Owen, MJ, O'Donovan, MC, Walters, J, Donnelly, P, Bates, L, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Hopkins, L, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Ripke, S, Neale, BM, Walters, JTR, Farh, K-H, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M-L, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chan, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodriguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Gratten, J, de Haan, L, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Julia, A, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kahler, AK, Laurent, C, Lee, J, Lee, SH, Legge, SE, Lerer, B, Li, M, Li, T, Liang, K-Y, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lonnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Muller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, S-Y, Olincy, A, Olsen, L, Van Os, J, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietilainen, O, Pimm, J, Pocklington, AJ, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, H-C, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Soderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, X, Zimprich, F, Wray, NR, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Buxbaum, JD, Borglum, AD, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jonsson, EG, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, D, Rujescu, D, Sham, PC, Sklar, P, St Clair, D, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, Sullivan, PF, Harold, D, Connolly, S, Riley, BP, Kendler, KS, McCarthy, SE, McCombie, WR, Richards, A, Owen, MJ, O'Donovan, MC, Walters, J, Donnelly, P, Bates, L, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Hopkins, L, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Ripke, S, Neale, BM, Walters, JTR, Farh, K-H, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M-L, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chan, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodriguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Gratten, J, de Haan, L, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Julia, A, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kahler, AK, Laurent, C, Lee, J, Lee, SH, Legge, SE, Lerer, B, Li, M, Li, T, Liang, K-Y, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lonnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Muller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, S-Y, Olincy, A, Olsen, L, Van Os, J, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietilainen, O, Pimm, J, Pocklington, AJ, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, H-C, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Soderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, X, Zimprich, F, Wray, NR, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Buxbaum, JD, Borglum, AD, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jonsson, EG, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, D, Rujescu, D, Sham, PC, Sklar, P, St Clair, D, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, and Sullivan, PF
Abstract: Genome-wide association studies (GWASs) are highly effective at identifying common risk variants for schizophrenia. Rare risk variants are also important contributors to schizophrenia etiology but, with the exception of large copy number variants, are difficult to detect with GWAS. Exome and genome sequencing, which have accelerated the study of rare variants, are expensive so alternative methods are needed to aid detection of rare variants. Here we re-analyze an Irish schizophrenia GWAS dataset (n = 3,473) by performing identity-by-descent (IBD) mapping followed by exome sequencing of individuals identified as sharing risk haplotypes to search for rare risk variants in coding regions. We identified 45 rare haplotypes (>1 cM) that were significantly more common in cases than controls. By exome sequencing 105 haplotype carriers, we investigated these haplotypes for functional coding variants that could be tested for association in independent GWAS samples. We identified one rare missense variant in PCNT but did not find statistical support for an association with schizophrenia in a replication analysis. However, IBD mapping can prioritize both individual samples and genomic regions for follow-up analysis but genome rather than exome sequencing may be more effective at detecting risk variants on rare haplotypes.
Published: 2019

8. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (vol 9, 1864, 2018)

Author: Iglesias, AI, Mishra, A, Vitart, V, Bykhovskaya, Y, Hoehn, R, Springelkamp, H, Cuellar-Partida, G, Gharahkhani, P, Bailey, JNC, Willoughby, CE, Li, X, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, van Leeuwen, EM, Taylor, KD, Bonnemaijer, P, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Souzeau, E, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SEM, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, AG, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, CCW, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, C-Y, Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP, van Duijn, CM, MacGregor, S, Wang, JJ, Rochtchina, E, Attia, J, Scott, R, Holliday, EG, Baird, PN, Xie, J, Inouye, M, Viswanathan, A, Sim, X, Allingham, RR, Brilliant, MH, Budenz, DL, Christen, WG, Fingert, J, Friedman, DS, Gaasterland, D, Gaasterland, T, Hauser, MA, Kraft, P, Lee, RK, Lichter, PR, Liu, Y, Loomis, SJ, Moroi, SE, Pericak-Vance, MA, Realini, A, Richards, JE, Schuman, JS, Scott, WK, Singh, K, Sit, AJ, Vollrath, D, Weinreb, RN, Wollstein, G, Zack, DJ, Zhang, K, Donnelly, P, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Iglesias, AI, Mishra, A, Vitart, V, Bykhovskaya, Y, Hoehn, R, Springelkamp, H, Cuellar-Partida, G, Gharahkhani, P, Bailey, JNC, Willoughby, CE, Li, X, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, van Leeuwen, EM, Taylor, KD, Bonnemaijer, P, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Souzeau, E, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SEM, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, AG, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, CCW, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, C-Y, Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP, van Duijn, CM, MacGregor, S, Wang, JJ, Rochtchina, E, Attia, J, Scott, R, Holliday, EG, Baird, PN, Xie, J, Inouye, M, Viswanathan, A, Sim, X, Allingham, RR, Brilliant, MH, Budenz, DL, Christen, WG, Fingert, J, Friedman, DS, Gaasterland, D, Gaasterland, T, Hauser, MA, Kraft, P, Lee, RK, Lichter, PR, Liu, Y, Loomis, SJ, Moroi, SE, Pericak-Vance, MA, Realini, A, Richards, JE, Schuman, JS, Scott, WK, Singh, K, Sit, AJ, Vollrath, D, Weinreb, RN, Wollstein, G, Zack, DJ, Zhang, K, Donnelly, P, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, and Whittaker, P
Abstract: Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article.
Published: 2019

9. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Author: Raveane, A., Aneli, S., Montinaro, F., Athanasiadis, G., Barlera, S., Birolo, G., Boncoraglio, G., Di Blasio, A. M., Di Gaetano, C., Pagani, L., Parolo, S., Paschou, P., Piazza, A., Stamatoyannopoulos, G., Angius, A., Brucato, N., Cucca, F., Hellenthal, G., Mulas, A., Peyret-Guzzon, M., Zoledziewska, M., Baali, A., Bycroft, C., Cherkaoui, M., Chiaroni, J., Di Cristofaro, J., Dina, C., Dugoujon, J. M., Galan, P., Giemza, J., Kivisild, T., Mazieres, S., Melhaoui, M., Metspalu, M., Myers, S., Pereira, L., Ricaut, F. X., Brisighelli, Francesca, Cardinali, I., Grugni, V., Lancioni, H., Pascali, Vincenzo Lorenzo, Torroni, A., Semino, O., Matullo, G., Achilli, A., Olivieri, A., Capelli, C., Brisighelli F. (ORCID:0000-0001-5469-4413), Pascali V. L. (ORCID:0000-0001-6520-5224), Raveane, A., Aneli, S., Montinaro, F., Athanasiadis, G., Barlera, S., Birolo, G., Boncoraglio, G., Di Blasio, A. M., Di Gaetano, C., Pagani, L., Parolo, S., Paschou, P., Piazza, A., Stamatoyannopoulos, G., Angius, A., Brucato, N., Cucca, F., Hellenthal, G., Mulas, A., Peyret-Guzzon, M., Zoledziewska, M., Baali, A., Bycroft, C., Cherkaoui, M., Chiaroni, J., Di Cristofaro, J., Dina, C., Dugoujon, J. M., Galan, P., Giemza, J., Kivisild, T., Mazieres, S., Melhaoui, M., Metspalu, M., Myers, S., Pereira, L., Ricaut, F. X., Brisighelli, Francesca, Cardinali, I., Grugni, V., Lancioni, H., Pascali, Vincenzo Lorenzo, Torroni, A., Semino, O., Matullo, G., Achilli, A., Olivieri, A., Capelli, C., Brisighelli F. (ORCID:0000-0001-5469-4413), and Pascali V. L. (ORCID:0000-0001-6520-5224)
Abstract: European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.
Published: 2019

10. Latin Americans show wide-spread Converso ancestry and the imprint of local Native ancestry on physical appearance

Author: Chacon-Duque, J., Adhikari, K., Fuentes-Guajardo, M., Mendoza-Revilla, J., Acuna-Alonzo, V., Barquera Lozano, R., Quinto-Sanchez, M., Gomez-Valdes, J., Everardo Martinez, P., Villamil-Ramirez, H., Hunemeier, T., Ramallo, V., Silva de Cerqueira, C., Hurtado, M., Villegas, V., Granja, V., Villena, M., Vasquez, R., Llop, E., Sandoval, J., Salazar-Granara, A., Parolin, M., Sandoval, K., Penaloza-Espinosa, R., Rangel-Villalobos, H., Winkler, C., Klitz, W., Bravi, C., Molina, J., Corach, D., Barrantes, R., Gomes, V., Resende, C., Gusmao, L., Amorim, A., Xue, Y., Dugoujon, J., Moral, P., Gonzalez-Jose, R., Schuler-Faccini, L., Salzano, F., Bortolini, M., Canizales-Quinteros, S., Poletti, G., Gallo, C., Bedoya, G., Rothhammer, F., Balding, D., Hellenthal, G., and Ruiz-Linares, A.
Subjects: parasitic diseases
Abstract: Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the admixture of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods here we infer the sub-populations involved in admixture for over 6,500 Latin Americans and evaluate the impact of sub-continental ancestry on the physical appearance of these individuals. We find that pre-Columbian Native genetic structure is mirrored in Latin Americans and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that Central Andean ancestry impacts on variation of facial features in Latin Americans, particularly nose morphology, possibly relating to environmental adaptation during the evolution of Native Americans.
Published: 2018

11. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Author: Raveane, A., primary, Aneli, S., additional, Montinaro, F., additional, Athanasiadis, G., additional, Barlera, S., additional, Birolo, G., additional, Boncoraglio, G., additional, Di Blasio, A. M., additional, Di Gaetano, C., additional, Pagani, L., additional, Parolo, S., additional, Paschou, P., additional, Piazza, A., additional, Stamatoyannopoulos, G., additional, Angius, A., additional, Brucato, N., additional, Cucca, F., additional, Hellenthal, G., additional, Mulas, A., additional, Peyret-Guzzon, M., additional, Zoledziewska, M., additional, Baali, A., additional, Bycroft, C., additional, Cherkaoui, M., additional, Chiaroni, J., additional, Di Cristofaro, J., additional, Dina, C., additional, Dugoujon, J. M., additional, Galan, P., additional, Giemza, J., additional, Kivisild, T., additional, Mazieres, S., additional, Melhaoui, M., additional, Metspalu, M., additional, Myers, S., additional, Pereira, L., additional, Ricaut, F. X., additional, Brisighelli, F., additional, Cardinali, I., additional, Grugni, V., additional, Lancioni, H., additional, Pascali, V. L., additional, Torroni, A., additional, Semino, O., additional, Matullo, G., additional, Achilli, A., additional, Olivieri, A., additional, and Capelli, C., additional
Published: 2019
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12. Population Structure, Demography and Recent Admixture

Author: Hellenthal, G., primary
Published: 2019
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13. Dauerformmaschinen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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14. Schleudergußmaschinen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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15. Die Eignung verschiedener Formmaschinen für bestimmte Zwecke

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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16. Das Gießen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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17. Zusammensetzmaschinen und andere Behelfe

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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18. Kern-Einsetzmaschinen : (Zahnrad-Formmaschinen.)

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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19. Kraftpreßmaschinen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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20. Handpreßmaschinen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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21. Rüttelmaschinen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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22. Temperguß

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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23. Form- oder Modellplattenformerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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24. Das Schwärzen und Trocknen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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25. Lehren- oder Schablonenformerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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26. Lehmformerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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27. Trockenkammern und Trockengruben

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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28. Einfache Kastenformerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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29. Ausführungsbeispiele für einfache Kastenformerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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30. Großguß

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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31. Die Herdformerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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32. Eingießen schmiedeiserner Speichen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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33. Blockformen (Stahlwerkskokillen)

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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34. Gliederkessel und Rippenheizkörper

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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35. Zylinderguß

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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36. Die Formkasten

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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37. Schreckschalen-(Kokillen-)Formerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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38. Einführung

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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39. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Author: Chacon-Duque, J-C, Adhikari, K, Fuentes-Guajardo, M, Mendoza-Revilla, J, Acuna-Alonzo, V, Barquera, R, Quinto-Sanchez, M, Gomez-Valdes, J, Everardo Martinez, P, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Villena, M, Vasquez, R, Llop, E, Sandoval, JR, Salazar-Granara, AA, Parolin, M-L, Sandoval, K, Penaloza-Espinosa, RI, Rangel-Villalobos, H, Winkler, CA, Klitz, W, Bravi, C, Molina, J, Corach, D, Barrantes, R, Gomes, V, Resende, C, Gusmao, L, Amorim, A, Xue, Y, Dugoujon, J-M, Moral, P, Gonzalez-Jose, R, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Poletti, G, Gallo, C, Bedoya, G, Rothhammer, F, Balding, D, Hellenthal, G, Ruiz-Linares, A, Chacon-Duque, J-C, Adhikari, K, Fuentes-Guajardo, M, Mendoza-Revilla, J, Acuna-Alonzo, V, Barquera, R, Quinto-Sanchez, M, Gomez-Valdes, J, Everardo Martinez, P, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Villena, M, Vasquez, R, Llop, E, Sandoval, JR, Salazar-Granara, AA, Parolin, M-L, Sandoval, K, Penaloza-Espinosa, RI, Rangel-Villalobos, H, Winkler, CA, Klitz, W, Bravi, C, Molina, J, Corach, D, Barrantes, R, Gomes, V, Resende, C, Gusmao, L, Amorim, A, Xue, Y, Dugoujon, J-M, Moral, P, Gonzalez-Jose, R, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Poletti, G, Gallo, C, Bedoya, G, Rothhammer, F, Balding, D, Hellenthal, G, and Ruiz-Linares, A
Abstract: Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.
Published: 2018

40. Walzformmaschinen

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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41. Maschinenformerei

Author: Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., Bauer, O., Beck, L., Buzek, Georg, Cremer, T., Daeves, K., Dornhecker, K., Durrer, R., Escher, Obering. M., Fiek, G., Hellenthal, G., Hornung, Oberbergrat J., Irresberger, C., Lohse, U., Oberhoffer, P., Philips, M., Schüz, E., Schwarz, C., Stadeler, A., Stotz, R., Treuheit, Obering. L., Waldmann, S. J., Wernicke, Fr., Widmaier, A., Witte, H., and Geiger, C., editor
Published: 1927
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42. The in Service Multi-Axial-Stress Situation in an Uncooled Gas Turbine Blade

Author: Fischersworring, A., Hellenthal, G., Koschel, W., Branco, C. Moura, editor, and Rosa, L. Guerra, editor
Published: 1989
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43. Die wichtigsten Eigenschaften des gießbaren Eisens und ihre Abhängigkeit von der chemischen Zusammensetzung

Author: Hellenthal, G. and Geiger, C., editor
Published: 1925
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44. Serum iron levels and the risk of Parkinson Disease: a Mendelian randomization study

Author: Pichler I, Del Greco M. F, Gögele M, Lill CM, Bertram L, Do CB, Eriksson N, Foroud T, Myers RH, PD GWAS Consortium, Nalls M, Keller MF, International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium 2, Benyamin B, Whitfield JB, Genetics of Iron Status Consortium, Pramstaller PP, Hicks AA, Thompson JR, Minelli C., Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón Sánchez J, Schulte C, Lesage S, Arepalli S, Barker R, Ben Shlomo Y, Berendse HW, Berg D, Bhatia K, de Bie RM, Biffi A, Bloem B, Bochdanovits Z, Bonin M, Bras JM, Brockmann K, Brooks J, Burn DJ, Charlesworth G, Chen H, Chinnery PF, Chong S, Clarke CE, Cookson MR, Cooper JM, Corvol JC, Counsell C, Damier P, Dartigues JF, Deloukas P, Deuschl G, Dexter DT, van Dijk KD, Dillman A, Durif F, Dürr A, Edkins S, Evans JR, Foltynie T, Gao J, Gardner M, Gibbs JR, Goate A, Gray E, Guerreiro R, Harris C, van Hilten JJ, Hofman A, Hollenbeck A, Holton J, Hu M, Huang X, Huber H, Hudson G, Hunt SE, Illig T, Lambert JC, Langford C, Lees A, Lichtner P, Limousin P, Lopez G, Lorenz D, McNeill A, Moorby C, Moore M, Morris HR, Morrison KE, Mudanohwo E, O'Sullivan SS, Pearson J, Perlmutter JS, Pollak P, Post B, Potter S, Ravina B, Revesz T, Riess O, Rivadeneira F, Rizzu P, Ryten M, Sawcer S, Schapira A, Scheffer H, Shaw K, Shoulson I, Sidransky E, Smith C, Spencer CC, Stockton JD, Strange A, Talbot K, Tanner CM, Tashakkori Ghanbaria A, Trabzuni D, Traynor BJ, Uitterlinden AG, Velseboer D, Vidailhet M, Walker R, van de Warrenburg B, Wickremaratchi M, Williams N, Williams Gray CH, Winder Rhodes S, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Su Z, Vukcevic D, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, McCarthy MI, Ouwehand WH, Radhakrishnan A, Sambrook J, Toniolo D, Camaschella C, Metspalu A, Esko T, Gieger C, Ried J, Meitinger T, Oexle K, Winkelmann J, Swinkels D, Vermeulen S, van Duijn C, Broer L, Beilby J, Hui J, Anderson D, Visscher P, Martin N., TRAGLIA, MICHELA, Pichler, Irene, Del Greco M, Fabiola, Gögele, Martin, Lill, Christina M, Benyamin, Beben, Minelli, Cosetta, PD GWAS Consortium, International Parkinson’s Disease Genomics Consortium, Wellcome Trust Case Control Consortium, Genetics of Iron Status Consortium, Pollak, Pierre, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Human genetics, NCA - Brain mechanisms in health and disease, ANS - Amsterdam Neuroscience, Neurology, Graduate School, Pichler, I, Del Greco M., F, Gögele, M, Lill, Cm, Bertram, L, Do, Cb, Eriksson, N, Foroud, T, Myers, Rh, PD GWAS, Consortium, Nalls, M, Keller, Mf, International Parkinson's Disease Genomics, Consortium, Wellcome Trust Case Control Consortium, 2, Benyamin, B, Whitfield, Jb, Genetics of Iron Status, Consortium, Pramstaller, Pp, Hicks, Aa, Thompson, Jr, Minelli, C., Plagnol, V, Hernandez, Dg, Sharma, M, Sheerin, Um, Saad, M, Simón Sánchez, J, Schulte, C, Lesage, S, Arepalli, S, Barker, R, Ben Shlomo, Y, Berendse, Hw, Berg, D, Bhatia, K, de Bie, Rm, Biffi, A, Bloem, B, Bochdanovits, Z, Bonin, M, Bras, Jm, Brockmann, K, Brooks, J, Burn, Dj, Charlesworth, G, Chen, H, Chinnery, Pf, Chong, S, Clarke, Ce, Cookson, Mr, Cooper, Jm, Corvol, Jc, Counsell, C, Damier, P, Dartigues, Jf, Deloukas, P, Deuschl, G, Dexter, Dt, van Dijk, Kd, Dillman, A, Durif, F, Dürr, A, Edkins, S, Evans, Jr, Foltynie, T, Gao, J, Gardner, M, Gibbs, Jr, Goate, A, Gray, E, Guerreiro, R, Harris, C, van Hilten, Jj, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, X, Huber, H, Hudson, G, Hunt, Se, Illig, T, Lambert, Jc, Langford, C, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Lorenz, D, Mcneill, A, Moorby, C, Moore, M, Morris, Hr, Morrison, Ke, Mudanohwo, E, O'Sullivan, S, Pearson, J, Perlmutter, J, Pollak, P, Post, B, Potter, S, Ravina, B, Revesz, T, Riess, O, Rivadeneira, F, Rizzu, P, Ryten, M, Sawcer, S, Schapira, A, Scheffer, H, Shaw, K, Shoulson, I, Sidransky, E, Smith, C, Spencer, Cc, Stockton, Jd, Strange, A, Talbot, K, Tanner, Cm, Tashakkori Ghanbaria, A, Trabzuni, D, Traynor, Bj, Uitterlinden, Ag, Velseboer, D, Vidailhet, M, Walker, R, van de Warrenburg, B, Wickremaratchi, M, Williams, N, Williams Gray, Ch, Winder Rhodes, S, Martinez, M, Hardy, J, Heutink, P, Brice, A, Gasser, T, Singleton, Ab, Wood, Nw, Donnelly, P, Barroso, I, Blackwell, Jm, Bramon, E, Brown, Ma, Casas, Jp, Corvin, A, Duncanson, A, Jankowski, J, Markus, H, Mathew, Cg, Palmer, Cn, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Su, Z, Vukcevic, D, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Mccarthy, Mi, Ouwehand, Wh, Radhakrishnan, A, Sambrook, J, Toniolo, D, Traglia, Michela, Camaschella, C, Metspalu, A, Esko, T, Gieger, C, Ried, J, Meitinger, T, Oexle, K, Winkelmann, J, Swinkels, D, Vermeulen, S, van Duijn, C, Broer, L, Beilby, J, Hui, J, Anderson, D, Visscher, P, and Martin, N.
Subjects: Relative risk reduction, Iron, Mendelian randomization analysis, Physiology, Genome-wide association study, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, SDG 17 - Partnerships for the Goals, Risk Factors, Mendelian randomization, medicine, Humans, Genetic Predisposition to Disease, Iron/blood, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, Parkinson Disease/blood/genetics, Confounding, Parkinson Disease, Mendelian Randomization Analysis, General Medicine, Iron metabolism, 3. Good health, ddc:616.8, Parkinson disease, Meta-analysis, Hereditary hemochromatosis, Serum iron, Medicine, 030217 neurology & neurosurgery, Research Article
Abstract: In this study, Mendelian randomization was used to study genes known to modify iron levels, and the effect of iron on Parkinson's disease (PD) risk was estimated. Based on estimates of the genetic effects on both iron and PD obtained from the largest sample meta-analyzed to date, the findings suggest that increased iron levels in the blood are associated with a 3% reduction in the risk of Parkinson's disease for every 10 µg/dL increase in iron. The results of this analysis have potentially important implications for future research into the prevention of Parkinson's disease. Please see later in the article for the Editors' Summary, Background Although levels of iron are known to be increased in the brains of patients with Parkinson disease (PD), epidemiological evidence on a possible effect of iron blood levels on PD risk is inconclusive, with effects reported in opposite directions. Epidemiological studies suffer from problems of confounding and reverse causation, and mendelian randomization (MR) represents an alternative approach to provide unconfounded estimates of the effects of biomarkers on disease. We performed a MR study where genes known to modify iron levels were used as instruments to estimate the effect of iron on PD risk, based on estimates of the genetic effects on both iron and PD obtained from the largest sample meta-analyzed to date. Methods and Findings We used as instrumental variables three genetic variants influencing iron levels, HFE rs1800562, HFE rs1799945, and TMPRSS6 rs855791. Estimates of their effect on serum iron were based on a recent genome-wide meta-analysis of 21,567 individuals, while estimates of their effect on PD risk were obtained through meta-analysis of genome-wide and candidate gene studies with 20,809 PD cases and 88,892 controls. Separate MR estimates of the effect of iron on PD were obtained for each variant and pooled by meta-analysis. We investigated heterogeneity across the three estimates as an indication of possible pleiotropy and found no evidence of it. The combined MR estimate showed a statistically significant protective effect of iron, with a relative risk reduction for PD of 3% (95% CI 1%–6%; p = 0.001) per 10 µg/dl increase in serum iron. Conclusions Our study suggests that increased iron levels are causally associated with a decreased risk of developing PD. Further studies are needed to understand the pathophysiological mechanism of action of serum iron on PD risk before recommendations can be made. Please see later in the article for the Editors' Summary, Editors' Summary Background Parkinson disease is a degenerative disorder of the central nervous system caused by the death of dopamine-generating cells in the substania nigra, a region of the midbrain. The earliest symptoms are usually movement-related and include tremor, slow movements, and difficulty walking, and later cognitive and behavioral problems may arise, with dementia commonly occurring in the advanced stages of the disease. Parkinson disease affects around ten million people world-wide and incidence increases with age, with men more affected than women. To date, the causes of Parkinson disease remain unknown although a combination of genetic and environmental factors is thought to play a role. Identifying possible modifiable risks is an important step in the possible prevention of Parkinson disease. Why Was This Study Done? Previous studies have shown a possible association between lower blood levels of iron in people with Parkinson disease compared with controls, although the quality of these studies makes this finding difficult to interpret. So in this study, the researchers used a mendelian randomization approach to investigate whether there was any evidence of an effect of blood iron levels on the risk of Parkinson disease and if so to further explore the direction and scale of any link. Mendelian randomization is a method of using measured variation in genes of known function to examine the causal effect of a modifiable exposure on disease in situations where it is inappropriate to perform a randomized controlled trial. What Did the Researchers Do and Find? The researchers estimated the effect of blood iron levels on the risk of Parkinson disease using three polymorphisms in two genes, HFE and TMPRSS6. For each polymorphism, they performed a meta-analysis combining the results of studies investigating the genetic effect on iron levels, which included almost 22,000 people from Europe and Australia, and a meta-analysis of studies investigating the genetic effect on the risk of Parkinson disease, which included a total of 20,809 people with Parkinson disease and 88,892 controls from Europe and North America. They then performed three separate mendelian randomization analyses to estimate the effect of iron on Parkinson disease for the three polymorphisms. By combining the three estimates, they obtained a statistically significant odds ratio of 0.97 for Parkinson disease per 10 µg/dl increase in iron, corresponding to a 3% reduction in the risk of Parkinson disease for every 10 µg/dl increase in blood iron. Since genotype influences on blood iron levels represent differences that generally persist throughout adult life, the combined mendelian randomization estimate reflects an effect of iron over the course of a lifetime. What Do These Findings Mean? These findings suggest that increased iron levels in the blood are associated with a 3% reduction in the risk of Parkinson disease for every 10 µg/dl increase in iron. This finding is important as it suggests that increased blood iron levels may have a protective effect against Parkinson disease, although the underlying mechanism remains unclear. Furthermore, although mendelian randomization is an increasingly used approach to address the issue of classical confounding, there may be remaining confounding factors specific of mendelian randomization that may influence the interpretation of this study. Nevertheless, the results of this analysis have potentially important implications for future research into the prevention of Parkinson disease. Further studies on the underlying mechanisms are needed before any specific treatment recommendations can be proposed. Additional Information Please access these Web sites via the online version of this summary at http://dx.doi.org/10.1371/journal.pmed.1001462. The National Institutes of Neurological Disorder and Stroke, MedlinePlus, and NHS Choices have several pages with comprehensive information on Parkinson disease Wikipedia gives an explanation of mendelian randomization (note that Wikipedia is a free online encyclopedia that anyone can edit; available in several languages)
Published: 2013

45. Evidence for Negative Selection at SNPs Increasing Dietary Choline Requirement in a Gambian Cohort

Author: Silver, M J, Corbin, K D, Hellenthal, G, Da Costa, K A, Dominguez-Salas, P, Moore, S E, Owen, J, Prentice, A M, Hennig, B J, and Zeishel, S H
Abstract: Choline is an essential nutrient, and the amount needed in the diet is modulated by several factors. Given geographical differences in dietary choline intake and disparate frequencies of single-nucleotide polymorphisms (SNPs) in choline metabolism genes between ethnic groups, we tested the hypothesis that 3 SNPs that increase dependence on dietary choline would be under negative selection pressure in settings where choline intake is low: choline dehydrogenase (CHDH) rs12676, methylenetetrahydrofolate reductase 1 (MTHFD1) rs2236225, and phosphatidylethanolamine-N-methyltransferase (PEMT) rs12325817. Evidence of negative selection was assessed in 2 populations: one in The Gambia, West Africa, where there is historic evidence of a choline-poor diet, and the other in the United States, with a comparatively choline-rich diet. We used 2 independent methods, and confirmation of our hypothesis was sought via a comparison with SNP data from the Maasai, an East African population with a genetic background similar to that of Gambians but with a traditional diet that is higher in choline. Our results show that frequencies of SNPs known to increase dependence on dietary choline are significantly reduced in the low-choline setting of The Gambia. Our findings suggest that adequate intake levels of choline may have to be reevaluated in different ethnic groups and highlight a possible approach for identifying novel functional SNPs under the influence of dietary selective pressure.
Published: 2015

46. Evidence for negative selection of gene variants that increase dependence on dietary choline in a Gambian cohort

Author: Corbin, K.D., Dominguez-Salas, P., Da Costa, K.-A., Zeisel, S.H., Moore, S.E., Hellenthal, G., Silver, M.J., Prentice, A.M., Owen, J., and Hennig, B.J.
Abstract: Choline is an essential nutrient, and the amount needed in the diet is modulated by several factors. Given geographical differences in dietary choline intake and disparate frequencies of single-nucleotide polymorphisms (SNPs) in choline metabolism genes between ethnic groups, we tested the hypothesis that 3 SNPs that increase dependence on dietary choline would be under negative selection pressure in settings where choline intake is low: choline dehydrogenase (CHDH) rs12676, methylenetetrahydrofolate reductase 1 (MTHFD1) rs2236225, and phosphatidylethanolamine-N-methyltransferase (PEMT) rs12325817. Evidence of negative selection was assessed in 2 populations: one in The Gambia, West Africa, where there is historic evidence of a choline-poor diet, and the other in the United States, with a comparatively choline-rich diet. We used 2 independent methods, and confirmation of our hypothesis was sought via a comparison with SNP data from the Maasai, an East African population with a genetic background similar to that of Gambians but with a traditional diet that is higher in choline. Our results show that frequencies of SNPs known to increase dependence on dietary choline are significantly reduced in the low-choline setting of The Gambia. Our findings suggest that adequate intake levels of choline may have to be reevaluated in different ethnic groups and highlight a possible approach for identifying novel functional SNPs under the influence of dietary selective pressure.
Published: 2015
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47. Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

Author: Robinson, PC, Leo, PJ, Pointon, JJ, Harris, J, Cremin, K, Bradbury, LA, Stebbings, S, Harrison, AA, Duncan, EL, Evans, DM, Wordsworth, PB, Brown, MA, Donnelly, P, Barroso, I, Blackwell, JM, Bramon, E, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CN, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CC, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Spencer, CCA, McCloskey, E, Eisman, J, Jones, G, Nicholson, G, Eastell, R, Sambrook, P, Prince, R, Dennison, E, Reid, I, Wark, J, Robinson, PC, Leo, PJ, Pointon, JJ, Harris, J, Cremin, K, Bradbury, LA, Stebbings, S, Harrison, AA, Duncan, EL, Evans, DM, Wordsworth, PB, Brown, MA, Donnelly, P, Barroso, I, Blackwell, JM, Bramon, E, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CN, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CC, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Spencer, CCA, McCloskey, E, Eisman, J, Jones, G, Nicholson, G, Eastell, R, Sambrook, P, Prince, R, Dennison, E, Reid, I, and Wark, J
Abstract: Ankylosing spondylitis (AS) is a common chronic immune-mediated arthropathy affecting primarily the spine and pelvis. The condition is strongly associated with HLA-B*27 as well as other human leukocyte antigen variants and at least 47 individual non-MHC-associated variants. However, substantial additional heritability remains as yet unexplained. To identify further genetic variants associated with the disease, we undertook an association study of AS in 5,040 patients and 21,133 healthy controls using the Illumina Exomechip microarray. A novel association achieving genome-wide significance was noted at CDKAL1. Suggestive associations were demonstrated with common variants in FAM118A, C7orf72 and FAM114A1 and with a low-frequency variant in PNPLA1. Two of the variants have been previously associated with inflammatory bowel disease (IBD; CDKAL1 and C7orf72). These findings further increase the evidence for the marked similarity of genetic risk factors for IBD and AS, consistent with the two diseases having similar aetiopathogenesis.
Published: 2016

48. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Author: International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, COMI , GIANCARLO, International Multiple Sclerosis Genetics, Consortium, Wellcome Trust Case Control Consortium, 2, Sawcer, S, Hellenthal, G, Pirinen, M, and Comi, Giancarlo
Published: 2011

49. Feralisation targets different genomic loci to domestication in the chicken

Author: Johnsson, M., primary, Gering, E., additional, Willis, P., additional, Lopez, S., additional, Van Dorp, L., additional, Hellenthal, G., additional, Henriksen, R., additional, Friberg, U., additional, and Wright, D., additional
Published: 2016
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50. Evidence for a Common Origin of Blacksmiths and Cultivators in the Ethiopian Ari within the Last 4500 Years: Lessons for Clustering-Based Inference

Author: Di Rienzo, A, van Dorp, L, Balding, D, Myers, S, Pagani, L, Tyler-Smith, C, Bekele, E, Tarekegn, A, Thomas, MG, Bradman, N, Hellenthal, G, Di Rienzo, A, van Dorp, L, Balding, D, Myers, S, Pagani, L, Tyler-Smith, C, Bekele, E, Tarekegn, A, Thomas, MG, Bradman, N, and Hellenthal, G
Abstract: The Ari peoples of Ethiopia are comprised of different occupational groups that can be distinguished genetically, with Ari Cultivators and the socially marginalised Ari Blacksmiths recently shown to have a similar level of genetic differentiation between them (FST ≈ 0.023 - 0.04) as that observed among multiple ethnic groups sampled throughout Ethiopia. Anthropologists have proposed two competing theories to explain the origins of the Ari Blacksmiths as (i) remnants of a population that inhabited Ethiopia prior to the arrival of agriculturists (e.g. Cultivators), or (ii) relatively recently related to the Cultivators but presently marginalized in the community due to their trade. Two recent studies by different groups analysed genome-wide DNA from samples of Ari Blacksmiths and Cultivators and suggested that genetic patterns between the two groups were more consistent with model (i) and subsequent assimilation of the indigenous peoples into the expanding agriculturalist community. We analysed the same samples using approaches designed to attenuate signals of genetic differentiation that are attributable to allelic drift within a population. By doing so, we provide evidence that the genetic differences between Ari Blacksmiths and Cultivators can be entirely explained by bottleneck effects consistent with hypothesis (ii). This finding serves as both a cautionary tale about interpreting results from unsupervised clustering algorithms, and suggests that social constructions are contributing directly to genetic differentiation over a relatively short time period among previously genetically similar groups.
Published: 2015

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