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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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On-line přístup: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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