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)
Patrick R. Gonzales, Erica Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland
Topics & Concepts
Uniparental disomyGeneticsMedical geneticsRuns of HomozygosityConsanguinityGenomicsBiologyGenetic testingSingle-nucleotide polymorphismProbandPersonal genomicsCopy-number variationExome sequencingGenomeMutationGenotypeChromosomeGeneKaryotypePrenatal Screening and DiagnosticsReproductive Health and Technologies