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Matchmaker Exchange.

Current protocols in human genetics - 18 Oct 2017

Sobreira Nara L M, Arachchi Harindra, Buske Orion J, Chong Jessica X, Hutton Ben, Foreman Julia, Schiettecatte François, Groza Tudor, Jacobsen Julius O B, Haendel Melissa A, Boycott Kym M, Hamosh Ada, Rehm Heidi L

Abstract excerpt

In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicism; variants of uncertain functional significance; technically inaccessible areas of the genome; incorrect mode of...

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Identifiers

PMID: 29044468
DOI: 10.1002/cphg.50
PMCID: PMC6016856

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MME

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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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