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Article

Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.

Human mutation - 1 Apr 2020

Chong Anne-Sophie, Chong George, Foulkes William D, Saskin Avi

Abstract excerpt

Genomic analysis has become a mainstay in the investigation of cancer patients, especially for those suspected of harboring a heritable cancer predisposition syndrome. With ubiquitous short-read next-generation sequencing (NGS) technologies, these analyses can be complicated by the inappropriate alignment of variants to homologous genomic regions or pseudogenes. Using distinct primer sets specific to the gene and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31916644
DOI: 10.1002/humu.23978

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.PMID 31916644Read ↗

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