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Article

Participant-driven matchmaking in the genomic era.

Human mutation - 1 Oct 2015

Lambertson Katherine F, Damiani Stephen A, Might Matthew, Shelton Robert, Terry Sharon F

Abstract excerpt

Whole-genome and whole-exome sequencing are increasingly useful diagnostic tools for novel monogenic conditions. In order to confirm diagnoses made using these technologies, genomic matchmaking-the matching of cases with similar phenotypic and/or genotypic profiles, to narrow the number of candidate genes or ascertain a condition's etiology with greater certainty-is essential. Yet, due to current limitations on...

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PMID: 26252162
DOI: 10.1002/humu.22852

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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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