Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics
Zirui Dong, Matthew Hoi Kin Chau, Yanyan Zhang, Zhenjun Yang, Mengmeng Shi, Y. Wah, Yvonne K. Kwok, Tak Yeung Leung, Cynthia C. Morton, Kwong Wai Choy
Topics & Concepts
Uniparental disomyLoss of heterozygosityConcordanceGeneticsBiologyGenomeMedical geneticsWhole genome sequencingGenomicsComputational biologyKaryotypeChromosomeGeneAlleleGenomics and Rare DiseasesGenetic Syndromes and ImprintingConnective tissue disorders research