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Article

Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024

Arreola Alexandra, Haskell Gloria, Gadi Inder, Penton Andrea, Schwartz Stuart

Abstract excerpt

PURPOSE: To examine the utility of single-nucleotide polymorphisms (SNP) microarray analysis to detect uniparental disomy (UPD) by utilizing trios and duos (for which only 1 parent is available). METHODS: We established Mendelian Inheritance Error (MIE) values associated with either UPD or biparental inheritance in a cohort of 124 patients. In duos, the percentage of proband heterozygous (AB) SNPs contributed...

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Identifiers

PMID: 39310964
DOI: 10.1016/j.gim.2024.101275

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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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