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Article

Clinical diagnosis by whole-genome sequencing of a prenatal sample.

The New England journal of medicine - 6 Dec 2012

Talkowski Michael E, Ordulu Zehra, Pillalamarri Vamsee, Benson Carol B, Blumenthal Ian, Connolly Susan, Hanscom Carrie, Hussain Naveed, Pereira Shahrin, Picker Jonathan, Rosenfeld Jill A, Shaffer Lisa G, Wilkins-Haug Louise E, Gusella James F, Morton Cynthia C

Abstract excerpt

Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, nucleotide-level...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Translocation, Genetic

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 23215558
DOI: 10.1056/NEJMoa1208594
PMCID: PMC3579222

Genes

CHD7

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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