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Article

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.

Bioinformatics (Oxford, England) - 15 Jun 2013

Schroeder Christopher, Sturm Marc, Dufke Andreas, Mau-Holzmann Ulrike, Eggermann Thomas, Poths Sven, Riess Olaf, Bonin Michael

Abstract excerpt

UNLABELLED: UPDtool is a computational tool for detection and classification of uniparental disomy (UPD) in trio SNP-microarray experiments. UPDs are rare events of chromosomal malsegregation and describe the condition of two homologous chromosomes or homologous chromosomal segments that were inherited from one parent. The occurrence of UPD can be of major clinical relevance. Though high-throughput molecular...

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PMID: 23589652
DOI: 10.1093/bioinformatics/btt174

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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