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Article

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Human molecular genetics - 15 Oct 2012

Swaminathan Ganesh J, Bragin Eugene, Chatzimichali Eleni A, Corpas Manuel, Bevan A Paul, Wright Caroline F, Carter Nigel P, Hurles Matthew E, Firth Helen V

Abstract excerpt

Patients with developmental disorders often harbour sub-microscopic deletions or duplications that lead to a disruption of normal gene expression or perturbation in the copy number of dosage-sensitive genes. Clinical interpretation for such patients in isolation is hindered by the rarity and novelty of such disorders. The DECIPHER project (https://decipher.sanger.ac.uk) was established in 2004 as an accessible...

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Identifiers

PMID: 22962312
DOI: 10.1093/hmg/dds362
PMCID: PMC3459644

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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