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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang: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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