Quantifying penetrance in a dominant disease gene using large population control cohorts

More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance - the probability that a carrier of the purported disease-causing genotype will indeed develop the disease - is generally unknown. Here we assess the impact of variants in the prion protein gene...

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Publicado no:Sci Transl Med
Main Authors: Minikel, Eric Vallabh, Vallabh, Sonia M., Lek, Monkol, Estrada, Karol, Samocha, Kaitlin E., Sathirapongsasuti, J. Fah, McLean, Cory Y., Tung, Joyce Y., Yu, Linda P.C., Gambetti, Pierluigi, Blevins, Janis, Zhang, Shulin, Cohen, Yvonne, Chen, Wei, Yamada, Masahito, Hamaguchi, Tsuyoshi, Sanjo, Nobuo, Mizusawa, Hidehiro, Nakamura, Yosikazu, Kitamoto, Tetsuyuki, Collins, Steven J., Boyd, Alison, Will, Robert G., Knight, Richard, Ponto, Claudia, Zerr, Inga, Kraus, Theo F.J., Eigenbrod, Sabina, Giese, Armin, Calero, Miguel, de Pedro-Cuesta, Jesús, Haïk, Stéphane, Laplanche, Jean-Louis, Bouaziz-Amar, Elodie, Brandel, Jean-Philippe, Capellari, Sabina, Parchi, Piero, Poleggi, Anna, Ladogana, Anna, O'Donnell-Luria, Anne H., Karczewski, Konrad J., Marshall, Jamie L., Boehnke, Michael, Laakso, Markku, Mohlke, Karen L., Kähler, Anna, Chambert, Kimberly, McCarroll, Steven, Sullivan, Patrick F., Hultman, Christina M., Purcell, Shaun M., Sklar, Pamela, van der Lee, Sven J., Rozemuller, Annemieke, Jansen, Casper, Hofman, Albert, Kraaij, Robert, van Rooij, Jeroen G.J., Ikram, M. Arfan, Uitterlinden, André G., van Duijn, Cornelia M., Daly, Mark J., MacArthur, Daniel G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4774245/
https://ncbi.nlm.nih.gov/pubmed/26791950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aad5169
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