Article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Human mutation - 1 May 2017
Carlston Colleen M, O'Donnell-Luria Anne H, Underhill Hunter R, Cummings Beryl B, Weisburd Ben, Minikel Eric V, Birnbaum Daniel P, Tvrdik Tatiana, MacArthur Daniel G, Mao Rong
Abstract excerpt
The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assumed to be absent or rare in these databases. Exome sequencing of a 6-year-old female patient with seizures, developmental...
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