Litcius/Paper detail

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

2021Genetics in Medicine33 citationsDOIOpen Access PDF

Topics & Concepts

Uniparental disomyLoss of heterozygosityConcordanceGeneticsBiologyGenomeMedical geneticsWhole genome sequencingGenomicsComputational biologyKaryotypeChromosomeGeneAlleleGenomics and Rare DiseasesGenetic Syndromes and ImprintingConnective tissue disorders research