A polygenic burden of rare disruptive mutations in schizophrenia

Nature64.80
Volume: 506, Issue: 7487, Pages: 185 - 190
Published: Jan 22, 2014
Abstract
Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium ion channel and the signalling...
Paper Details
Title
A polygenic burden of rare disruptive mutations in schizophrenia
Published Date
Jan 22, 2014
Journal
Volume
506
Issue
7487
Pages
185 - 190
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