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Article

The use of whole-exome sequencing to disentangle complex phenotypes.

European journal of human genetics : EJHG - 1 Feb 2016

Williams Hywel J, Hurst John R, Ocaka Louise, James Chela, Pao Caroline, Chanudet Estelle, Lescai Francesco, Stanescu Horia C, Kleta Robert, Rosser Elisabeth, Bacchelli Chiara, Beales Philip

Abstract excerpt

The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so far had limited success in the identification of variants causing more complex phenotypes that seem unlikely to be due to the disruption of a single gene. We describe a family where two male offspring of healthy first cousin parents present a complex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26059842
DOI: 10.1038/ejhg.2015.121
PMCID: PMC4717198

Genes

PRX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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