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

Angad S. Johar, Juan Manuel Anaya, Dan Andrews, Hardip R. Patel, Matthew Field, Chris Goodnow, Mauricio Arcos-Burgos

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)204-209
Number of pages6
JournalAutoimmunity Reviews
Volume14
Issue number3
DOIs
StatePublished - Mar 1 2015

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology

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