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Article

Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.

BMJ (Clinical research ed.) - 15 Feb 2021

Mn Weedon, L Jackson, Jw Harrison, Ks Ruth, J Tyrrell, At Hattersley, Cf Wright

Abstract excerpt

OBJECTIVE: To determine whether the sensitivity and specificity of SNP chips are adequate for detecting rare pathogenic variants in a clinically unselected population. DESIGN: Retrospective, population based diagnostic evaluation. PARTICIPANTS: 49 908 people recruited to the UK Biobank with SNP chip and next generation sequencing data, and an additional 21 people who purchased consumer genetic tests and shared...

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Identifiers

PMID: 33589468
DOI: 10.1136/bmj.n214
PMCID: PMC7879796

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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