Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity
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The authors aimed to evaluate the performance of medium-coverage whole-genome sequencing (CNV-plus) in detecting absence of heterozygosity (AOH) in prenatal samples, comparing it to the standard chromosomal microarray analysis (CMA). Their findings indicate that CNV-plus shows high sensitivity and specificity, particularly for larger AOH regions, and demonstrates good concordance with CMA, suggesting it could serve as a complementary method in prenatal testing for AOH.
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