A framework for the detection of de novo mutations in family-based sequencing data

A framework for the detection of de novo mutations in family-based sequencing data

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 a...

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Những tác giả chính: Francioli, L, Cretu-Stancu, M, Garimella, K, Fromer, M, Kloosterman, W, Genome Of The Netherlands Consortium, Samocha, K, Neale, B, Daly, M, Banks, E, Depristo, M, De Bakker, P, Palamara, P
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: Springer Nature 2016

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