Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
Daniela del Gaudio, Marwan Shinawi, Caroline Astbury, Marwan K. Tayeh, Kristen Deak, Gordana Raca
Topics & Concepts
Medical geneticsGenomicsStatement (logic)Uniparental disomyGeneticsGenetic testingBiologyMedicineComputational biologyGenomeChromosomeGenePhilosophyEpistemologyKaryotypeGenetic Syndromes and ImprintingPrenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities