de novo variant associated_with siblings

Subject: de novo variant
Relation: associated_with
Object: siblings
p-value: —

Evidence from: primary | all sources

Evidence (4 sources)

De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (2017) PMID:28472652 cited

compare the number of observed de novo variants of a particular class in probands versus siblings

confidence: 0.95

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

burden of rare de novo CNVs is significantly greater in simplex cases ... than in unaffected siblings (1.7–1.9%)

confidence: 0.94

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

16 de novo CNVs expected in siblings

confidence: 0.80

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

we investigated these events in probands versus their unaffected siblings

confidence: 0.90