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Article

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2013

Sund Kristen Lipscomb, Zimmerman Sarah L, Thomas Cameron, Mitchell Anna L, Prada Carlos E, Grote Lauren, Bao Liming, Martin Lisa J, Smolarek Teresa A

Abstract excerpt

PURPOSE: The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions of homozygosity, and discuss ethical/legal implications when regions of homozygosity are associated with a parental blood relationship. METHODS: Study data were compiled from consecutive samples sent to our clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22858719
DOI: 10.1038/gim.2012.94

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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