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Article

Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory.

Human heredity - 1 Jan 2014

Sund Kristen Lipscomb, Rehder Catherine Weaver

Abstract excerpt

The detection of consanguinity by the presence of multiple regions of homozygosity (ROH) is not an uncommon occurrence in clinical laboratories performing SNP microarray analysis. Reporting practices amongst laboratories are highly variable, due in part to differences in testing platforms, threshold parameters, language utilized, and laboratory policies. While guidance documents have provided a framework for...

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PMID: 25060286
DOI: 10.1159/000362448

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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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