Article

Identifying highly-penetrant disease causal mutations using next generation sequencing: Guide to whole process

2014-11-06

Abstract excerpt

<h4>ABSTRACT</h4> 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, 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 att...

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Literature Corpus work: 05dfb21b-ad81-536d-9630-178da2e28756
DOI: 10.1101/011130

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