Article
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.
BioMed research international - 1 Jan 2015
Erzurumluoglu A Mesut, Rodriguez Santiago, Shihab Hashem A, Baird Denis, Richardson Tom G, Day Ian N M, Gaunt Tom R
Abstract excerpt
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 sequence analysis is a significant issue, with a considerable amount of time spent before anyone can even attempt to...
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