A polygenic burden of rare disruptive mutations in schizophrenia

By analyzing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we have demonstrated a polygenic burden primarily arising from rare (<1/10,000), disruptive mutations distributed across many genes. Especially enriched genesets included the voltage-gated calcium ion channel and th...

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Detalhes bibliográficos
Main Authors: Purcell, Shaun M., Moran, Jennifer L., Fromer, Menachem, Ruderfer, Douglas, Solovieff, Nadia, Roussos, Panos, O’Dushlaine, Colm, Chambert, Kimberly, Bergen, Sarah E., Kähler, Anna, Duncan, Laramie, Stahl, Eli, Genovese, Giulio, Fernández, Esperanza, Collins, Mark O, Komiyama, Noboru H., Choudhary, Jyoti S., Magnusson, Patrik K. E., Banks, Eric, Shakir, Khalid, Garimella, Kiran, Fennell, Tim, de Pristo, Mark, Grant, Seth G.N., Haggarty, Stephen, Gabriel, Stacey, Scolnick, Edward M., Lander, Eric S., Hultman, Christina, Sullivan, Patrick F., McCarroll, Steven A., Sklar, Pamela
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4136494/
https://ncbi.nlm.nih.gov/pubmed/24463508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature12975
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