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Article

Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.

Journal of medical genetics - 1 Jan 2015

Wu Lang, Schaid Daniel J, Sicotte Hugues, Wieben Eric D, Li Hu, Petersen Gloria M

Abstract excerpt

Whole exome sequencing (WES) provides an unprecedented opportunity to identify the potential aetiological role of rare functional variants in human complex diseases. Large-scale collaborations have generated germline WES data on patients with a number of diseases, especially cancer, but less often on healthy controls under the same sequencing procedures. These data can be a valuable resource for identifying new...

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Identifiers

PMID: 25371537
DOI: 10.1136/jmedgenet-2014-102697
PMCID: PMC4503357

Provenance

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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