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Article

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature neuroscience - 1 Nov 2016

Genovese Giulio, Fromer Menachem, Stahl Eli A, Ruderfer Douglas M, Chambert Kimberly, Landén Mikael, Moran Jennifer L, Purcell Shaun M, Sklar Pamela, Sullivan Patrick F, Hultman Christina M, McCarroll Steven A

Abstract excerpt

By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877 individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 other individuals, we identified 244,246 coding-sequence and splice-site ultra-rare variants (URVs) that were unique to individual Swedes. We found that gene-disruptive and putatively protein-damaging URVs (but not synonymous URVs) were more...

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Identifiers

PMID: 27694994
DOI: 10.1038/nn.4402
PMCID: PMC5104192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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