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Diagnostic Utility of Low-Pass Whole Genome Sequencing in Prenatal Detection of Chromosomal Abnormalities in an Indian Cohort

2025-07-11 genetic and genomic medicine Title + abstract only
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ObjectiveThis study evaluates the diagnostic utility of low-pass whole genome sequencing (LP-WGS) for the detection of chromosomal abnormalities in Amniotic fluid samples (AFS), Chorionic villi samples (CVS) and Product of conception (POC) samples from India. MethodsA total of 1508 prenatal samples including - AFS, CVS and POC were analyzed using LP-WGS at either low-resolution ([~]0.5-1X) or high-resolution ([~]5X). CNV analysis was performed using StrandNGS v4.2 and Variant Intelligence Appli...

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