de novo variant risk_factor_for autism
Evidence from:
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Evidence (3 sources)
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
(2012)
PMID:22511880
cited
Recent studies have confirmed the contribution of ... de novo copy number variants (5–10% of cases) ... to autism.
confidence: 0.95
De novo CNVs have consistently shown the strongest association with risk for autism ...
confidence: 0.96
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
(2011)
PMID:21658581
cited
strong prior evidence for an increased burden of de novo CNVS in simplex autism
confidence: 0.94