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Article

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

Human mutation - 1 Oct 2015

Chatzimichali Eleni A, Brent Simon, Hutton Benjamin, Perrett Daniel, Wright Caroline F, Bevan Andrew P, Hurles Matthew E, Firth Helen V, Swaminathan Ganesh J

Abstract excerpt

DECIPHER (https://decipher.sanger.ac.uk) is a web-based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants from well-phenotyped patients suffering from genetic disorders. DECIPHER aids clinical interpretation of these rare sequence and copy-number variants by providing tools for variant analysis and identification of other patients exhibiting similar genotype-phenotype...

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Share to Databases, Genetic
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26220709
DOI: 10.1002/humu.22842
PMCID: PMC4832335

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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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