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Article

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Nucleic acids research - 1 Jan 2014

Bragin Eugene, Chatzimichali Eleni A, Wright Caroline F, Hurles Matthew E, Firth Helen V, Bevan A Paul, Swaminathan G Jawahar

Abstract excerpt

The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare disorders. Contributing to DECIPHER is an international consortium of >200 academic clinical centres of genetic medicine and ≥1600 clinical geneticists and diagnostic...

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Identifiers

PMID: 24150940
DOI: 10.1093/nar/gkt937
PMCID: PMC3965078

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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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