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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Article
Online toegang: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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