Skip navigation
Skip navigation

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)


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
Source: Autoimmunity Reviews
DOI: 10.1016/j.autrev.2014.10.021


File Description SizeFormat Image
01_Johar_Candidate_gene_discovery_in_2015.pdf770.14 kBAdobe PDF    Request a copy

Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  22 January 2019/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator