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Article

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

Autoimmunity reviews - 1 Mar 2015

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

Abstract excerpt

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, u...

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PMID: 25447288
DOI: 10.1016/j.autrev.2014.10.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25447288-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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