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Article

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

Journal of neurology - 1 Jul 2015

Daud Daniyal, Griffin Helen, Douroudis Konstantinos, Kleinle Stephanie, Eglon Gail, Pyle Angela, Chinnery Patrick F, Horvath Rita

Abstract excerpt

Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to identify causative mutations in complex, undiagnosed genetic conditions. Causative mutations are usually identified after filtering the hundreds of variants on WES from an individual's DNA selecte...

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Identifiers

PMID: 25957632
DOI: 10.1007/s00415-015-7755-y
PMCID: PMC4503877

Genes

DCTN1
NEFH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25957632-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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