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Article

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

The New England journal of medicine - 1 Apr 2010

Lupski James R, Reid Jeffrey G, Gonzaga-Jauregui Claudia, Rio Deiros David, Chen David C Y, Nazareth Lynne, Bainbridge Matthew, Dinh Huyen, Jing Chyn, Wheeler David A, McGuire Amy L, Zhang Feng, Stankiewicz Pawel, Halperin John J, Yang Chengyong, Gehman Curtis, Guo Danwei, Irikat Rola K, Tom Warren, Fantin Nick J, Muzny Donna M, Gibbs Richard A

Abstract excerpt

BACKGROUND: Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20220177
DOI: 10.1056/NEJMoa0908094
PMCID: PMC4036802

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20220177-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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