Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.

Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g., mutation databases, and software). This wide range of methods and a diversity of file formats used in sequen...

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Bibliographic Details

Published in:	BioMed Research International Vol. 2015; pp. 1 - 17
Main Authors:	Erzurumluoglu, A. Mesut, Rodriguez, Santiago, Shihab, Hashem A., Baird, Denis, Richardson, Tom G., Day, Ian N. M., Gaunt, Tom R.
Format:	algorithm review tables/charts Journal Article
Published:	Wiley-Blackwell 5/3/2015
Online Access:	View this record in EBSCOhost