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Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture

Johar, Angad; Anaya, Juan-Manuel; Andrews, Dan; Patel, Hardip; Field, Matthew; Goodnow, Christopher; Arcos-Burgos, Mauricio (Oscar)

Description

Whole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with inherited diseases. Many studies have shown that the strategy has been broad and proficient due to its ability in detecting a high proportion of disease causing variants, using only a small portion of the genome. In this review we outline the main steps involved in WES, the comprehensive analysis of the massive data obtained including the genomic capture, amplification,...[Show more]

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
URI: http://hdl.handle.net/1885/76453
Source: Autoimmunity Reviews
DOI: 10.1016/j.autrev.2014.10.021

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