Incorporating family disease history and controlling case–control imbalance for population-based genetic association studies

Autor: Yongwen Zhuang, Brooke N Wolford, Kisung Nam, Wenjian Bi, Wei Zhou, Cristen J Willer, Bhramar Mukherjee, Seunggeun Lee

Publikováno v: Bioinformatics. 38:4337-4343

Motivation In the genome-wide association analysis of population-based biobanks, most diseases have low prevalence, which results in low detection power. One approach to tackle the problem is using family disease history, yet existing methods are una

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c19e2c0bf9fca27a251efd5aaea9dc3
https://doi.org/10.1093/bioinformatics/btac459

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Autor: Arianna DiFlorio, Patrick F. Sullivan, Sebastian Zöllner, Margarita Rivera, Richard M. Myers, Stanley J. Watson, Jun Li, Anders Juréus, Sarah E. Bergen, Gonçalo R. Abecasis, Jordan W. Smoller, Michael Conlon O'Donovan, Neil Risch, Hoang T. Nguyen, Chen Jiang, Xiaoming Jia, Mehdi Pirooznia, Danielle Posthuma, Adam E. Locke, Peter P. Zandi, John B. Vincent, Niamh Mullins, Duncan Palmer, Shaun Purcell, Gerome Breen, Christina M. Hultman, Andreas Reif, Khanh K. Thai, Virginia L. Willour, Pui-Yan Kwok, Laura J. Scott, Anne U. Jackson, Michael John Owen, Fernando S. Goes, Steven A. McCarroll, James B. Potash, Mikael Landén, Jennifer L. Moran, Michele T. Pato, Hyun Min Kang, Marco P. Boks, Sinéad B. Chapman, W. Richard McCombie, Janet L. Sobell, Matthew Zawistowski, Rolf Adolfsson, Yongwen Zhuang, Michael Boehnke, René S. Kahn, Huda Akil, James T.R. Walters, Margit Burmeister, Douglas Blackwood, Cathryn M. Lewis, Eli A. Stahl, Mark N. Kvale, Melissa DelaBastide, Catherine Schaefer, Benjamin M. Neale, Giulio Genovese, Carlos N. Pato, Nicholas John Craddock, Andrew McQuillin, Shawn Levy, Aiden Corvin, Pamela Sklar, Weiqing Wang, Andrew M. McIntosh, Ling Shen, Eric T. Monson, Derek W. Morris, Douglas M. Ruderfer, Roel A. Ophoff, Peter McGuffin, Sarah Cohen-Woods, Willem H. Ouwehand

Publikováno v: Molecular Psychiatry, 26(9), 5239-5250. Nature Publishing Group
Molecular psychiatry, vol 26, iss 9
Jia, X, Goes, F S, Locke, A E, Palmer, D, Wang, W, Cohen-Woods, S, Genovese, G, Jackson, A U, Jiang, C, Kvale, M, Mullins, N, Nguyen, H, Pirooznia, M, Rivera, M, Ruderfer, D M, Shen, L, Thai, K, Zawistowski, M, Zhuang, Y, Abecasis, G, Akil, H, Bergen, S, Burmeister, M, Chapman, S, DelaBastide, M, Juréus, A, Kang, H M, Kwok, P Y, Li, J Z, Levy, S E, Monson, E T, Moran, J, Sobell, J, Watson, S, Willour, V, Zöllner, S, Adolfsson, R, Blackwood, D, Boehnke, M, Breen, G, Corvin, A, Craddock, N, DiFlorio, A, Hultman, C M, Landen, M, Lewis, C, McCarroll, S A, Richard McCombie, W, McGuffin, P, McIntosh, A, McQuillin, A, Morris, D, Myers, R M, O’Donovan, M, Ophoff, R, Boks, M, Kahn, R, Ouwehand, W, Owen, M, Pato, C, Pato, M, Posthuma, D, Potash, J B, Reif, A, Sklar, P, Smoller, J, Sullivan, P F, Vincent, J, Walters, J, Neale, B, Purcell, S, Risch, N, Schaefer, C, Stahl, E A, Zandi, P P & Scott, L J 2021, ' Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder ', Molecular Psychiatry, vol. 26, no. 9, pp. 5239-5250 . https://doi.org/10.1038/s41380-020-01006-9
Molecular Psychiatry
Jia, X, Goes, F S, Locke, A E, Palmer, D, Wang, W, Cohen-Woods, S, Genovese, G, Jackson, A U, Jiang, C, Kvale, M, Mullins, N, Nguyen, H, Pirooznia, M, Rivera, M, Ruderfer, D M, Shen, L, Thai, K, Zawistowski, M, Zhuang, Y, Abecasis, G, Akil, H, Bergen, S, Burmeister, M, Champion, S, DelaBastide, M, Juréus, A, Kang, H M, Kwok, P-Y, Li, J Z, Levy, S E, Monson, E T, Moran, J, Sobell, J, Watson, S, Willour, V, Zöllner, S, Adolfsson, R, Blackwood, D, Boehnke, M, Breen, G, Corvin, A, Craddock, N, DiFlorio, A, Hultman, C M, Landen, M, Lewis, C, McCarroll, S A, Richard McCombie, W, McGuffin, P, McIntosh, A, McQuillin, A, Morris, D, Myers, R M, O’Donovan, M, Ophoff, R, Boks, M, Kahn, R, Ouwehand, W, Owen, M, Pato, C, Pato, M, Posthuma, D, Potash, J B, Reif, A, Sklar, P, Smoller, J, Sullivan, P F, Vincent, J, Walters, J, Neale, B, Purcell, S, Risch, N, Schaefer, C, Stahl, E A, Zandi, P P & Scott, L J 2021, ' Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder ', Molecular Psychiatry, vol. 26, no. 9, pp. 5239-5250 . https://doi.org/10.1038/s41380-020-01006-9
Jia, X, Goes, F S, Locke, A E, Palmer, D, Wang, W, Cohen-woods, S, Genovese, G, Jackson, A U, Jiang, C, Kvale, M, Mullins, N, Nguyen, H, Pirooznia, M, Rivera, M, Ruderfer, D M, Shen, L, Thai, K, Zawistowski, M, Zhuang, Y, Abecasis, G, Akil, H, Bergen, S, Burmeister, M, Chapman, S, Delabastide, M, Juréus, A, Kang, H M, Kwok, P, Li, J Z, Levy, S E, Monson, E T, Moran, J, Sobell, J, Watson, S, Willour, V, Zöllner, S, Adolfsson, R, Blackwood, D, Boehnke, M, Breen, G, Corvin, A, Craddock, N, Diflorio, A, Hultman, C M, Landen, M, Lewis, C, Mccarroll, S A, Richard Mccombie, W, Mcguffin, P, Mcintosh, A, Mcquillin, A, Morris, D, Myers, R M, O’donovan, M, Ophoff, R, Boks, M, Kahn, R, Ouwehand, W, Owen, M, Pato, C, Pato, M, Posthuma, D, Potash, J B, Reif, A, Sklar, P, Smoller, J, Sullivan, P F, Vincent, J, Walters, J, Neale, B, Purcell, S, Risch, N, Schaefer, C, Stahl, E A, Zandi, P P & Scott, L J 2021, ' Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder ', Molecular Psychiatry . https://doi.org/10.1038/s41380-020-01006-9
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)

Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic) sequences of 3,987 unrelated individuals

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b28270dff0616afd7d691245b0f9b8
https://research.vu.nl/en/publications/5db60cd7-dd49-4271-b724-a8cb3ceb8d2c