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
Main Authors: A. Mesut Erzurumluoglu, Santiago Rodriguez, Hashem A. Shihab, Denis Baird, Tom G. Richardson, Ian N. M. Day, Tom R. Gaunt
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2015/923491