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Article

The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.

Clinical genetics - 1 Oct 2015

Nguyen M T, Charlebois K

Abstract excerpt

Whole-exome sequencing (WES) carries the potential to facilitate the identification of disease causing genes. This is particularly relevant concerning rare diseases, which proves particularly difficult for physicians to diagnose. However, the complexity of this technology renders its applicability onto the clinical setting uncertain. Our study thus aims to understand physicians' perspectives regarding the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25421945
DOI: 10.1111/cge.12546

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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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