The struggle to find reliable results in exome sequencing data: Filtering out Mendelian errors

Next Generation Sequencing studies generate a large quantity of genetic data in a relatively cost and time efficient manner and provide an unprecedented opportunity to identify candidate causative variants that lead to disease phenotypes. A challenge to these studies is the generation of sequencing...

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Bibliografiska uppgifter

Huvudupphov:	Zubin Hasmukh Patel, Leah Claire Kottyan, Sara eLazaro, Marc S. Williams, David H. Ledbetter, Gerard eTromp, Andrew eRupert, Mojtaba eKohram, Michael eWagner, Ammar eHusami, Yaping eQian, C. Alexander eValencia, Kejian eZhang, Margaret K. Hostetter, John Barker Harley, Kenneth eKaufman
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Frontiers Media S.A. 2014-02-01
Serie:	Frontiers in Genetics
Ämnen:	Next-generation sequencing whole exome sequencing Variant Filtering Disease Causative Polymorphisms Mendelian Errors Mendel Errors
Länkar:	http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00016/full
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