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Article

Clinical application of exome sequencing in undiagnosed genetic conditions.

Journal of medical genetics - 1 Jun 2012

Need Anna C, Shashi Vandana, Hitomi Yuki, Schoch Kelly, Shianna Kevin V, McDonald Marie T, Meisler Miriam H, Goldstein David B

Abstract excerpt

BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a clinical setting that includes patients with a broad range of phenotypic presentations. METHODS: The authors present a pilot programme of whole-exome sequencing on 12 patients with unexplained and apparent genetic conditions,...

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Identifiers

PMID: 22581936
DOI: 10.1136/jmedgenet-2012-100819
PMCID: PMC3375064

Genes

EFTUD2
EFEMP1
NGLY1
SMAD4
TCF4

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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