de novo variant risk_factor_for ASD

Subject: de novo variant
Relation: risk_factor_for
Object: ASD
p-value: —

Evidence from: primary | all sources

Evidence (6 sources)

Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013) PMID:23880486 cited

Such mutations are associated with risk of ASD

confidence: 0.95

CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012) PMID:22424231 cited

De novo CNV is a contributing factor in 5–10% of patients.

confidence: 0.95

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

we derived an estimate of 234 distinct genomic regions contributing to large ASD-related de novo structural variations

confidence: 0.95

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

Prior studies have often found a combination of rare transmitted and de novo CNVs at ASD risk regions.

confidence: 0.85

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

Probands with de novo CNVs ... were removed prior to matching

confidence: 0.90

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

estimated 130 loci ... contributing large rare de novo risk variants

confidence: 0.95