Article
A framework for the detection of de novo mutations in family-based sequencing data.
European journal of human genetics : EJHG - 1 Feb 2017
Francioli Laurent C, Cretu-Stancu Mircea, Garimella Kiran V, Fromer Menachem, Kloosterman Wigard P, Samocha Kaitlin E, Neale Benjamin M, Daly Mark J, Banks Eric, DePristo Mark A, de Bakker Paul Iw
Abstract excerpt
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing technologies and the uneven coverage across the genome. We developed PhaseByTransmission (PBT) to identify de novo single nucleotide variants and short insertions and deletions (indels) from sequence data collected in parent-offspring trios. We compute the...
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