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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Κύριοι συγγραφείς: 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
Μορφή: Journal article
Γλώσσα:English
Έκδοση: Springer Nature 2016

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