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DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.

Annual review of genomics and human genetics - 25 Aug 2023

Foreman Julia, Perrett Daniel, Mazaika Erica, Hunt Sarah E, Ware James S, Firth Helen V

Abstract excerpt

DECIPHER (Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases. The platform sits at the boundary between genomic research and the clinical community. DECIPHER aims to ensure that the most up-to-date data...

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Identifiers

PMID: 37285546
DOI: 10.1146/annurev-genom-102822-100509
PMCID: PMC7615097

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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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