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Article

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.

Cold Spring Harbor perspectives in medicine - 7 Aug 2015

van den Veyver Ignatia B, Eng Christine M

Abstract excerpt

New sequencing methods capable of rapidly analyzing the genome at increasing resolution have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and adult medicine. Targeted tests, consisting of disease-focused multigene panels and diagnostic exome sequencing to interrogate the sequence of the coding regions of nearly all genes, are now clinically offered when there is suspicion for...

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Identifiers

PMID: 26253094
DOI: 10.1101/cshperspect.a023077
PMCID: PMC4588135

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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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