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Article

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

Hoppman Nicole, Rumilla Kandelaria, Lauer Emily, Kearney Hutton, Thorland Erik

Abstract excerpt

PURPOSE: Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29565418
DOI: 10.1038/gim.2018.24

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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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