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

Johar, Angad S., Anaya, Juan-Manuel, Andrews, Dan, Patel, Hardip R., Field, Matthew, Goodnow, Chris, and Arcos-Burgos, Mauricio (2015) Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture. Autoimmunity Reviews, 14 (3). pp. 204-209.

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Abstract

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, sequencing, alignment, curating, filtering and genetic analysis to determine the presence of candidate variants with potential pathogenic/functional effect. Further, we propose that the multiple autoimmune syndrome, an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of major effect underpinning the lost of self-tolerance.

Item ID: 43582
Item Type: Article (Research - C1)
ISSN: 1873-0183
Keywords: multiple autoimmune syndrome; next generation sequencing; polyautoimmunity; whole exome sequencing; whole genome sequencing
Date Deposited: 28 Apr 2016 22:31
FoR Codes: 06 BIOLOGICAL SCIENCES > 0601 Biochemistry and Cell Biology > 060102 Bioinformatics @ 25%
06 BIOLOGICAL SCIENCES > 0604 Genetics > 060408 Genomics @ 25%
11 MEDICAL AND HEALTH SCIENCES > 1107 Immunology > 110706 Immunogenetics (incl Genetic Immunology) @ 50%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920108 Immune System and Allergy @ 100%
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