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Article

Use of model organism and disease databases to support matchmaking for human disease gene discovery.

Human mutation - 1 Oct 2015

Mungall Christopher J, Washington Nicole L, Nguyen-Xuan Jeremy, Condit Christopher, Smedley Damian, Köhler Sebastian, Groza Tudor, Shefchek Kent, Hochheiser Harry, Robinson Peter N, Lewis Suzanna E, Haendel Melissa A

Abstract excerpt

The Matchmaker Exchange application programming interface (API) allows searching a patient's genotypic or phenotypic profiles across clinical sites, for the purposes of cohort discovery and variant disease causal validation. This API can be used not only to search for matching patients, but also to match against public disease and model organism data. This public disease data enable matching known diseases and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Source

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Identifiers

PMID: 26269093
DOI: 10.1002/humu.22857
PMCID: PMC5473253

Provenance

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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