Article
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2022
Gonzales Patrick R, Andersen Erica F, Brown Teneille R, Horner Vanessa L, Horwitz Juli, Rehder Catherine W, Rudy Natasha L, Robin Nathaniel H, Thorland Erik C, On Behalf Of The Acmg Laboratory Quality Assurance Committee
Abstract excerpt
Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)-based chromosomal microarray and exome and genome sequencing, can detect long regions of homozygosity (ROH) within the genome. Genomic testing can also detect possible uniparental disomy (UPD). Platforms that can detect ROH and possible UPD have matured since the initial American College of Medical Genetics and...
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