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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Bibliografiska uppgifter
Huvudupphovsmän:	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
Materialtyp:	Journal article
Språk:	English
Publicerad:	Springer Nature 2016

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

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