Genetic & Genomic MedicinemedRxivPreprint
Diagnostic Utility of Low-Pass Whole Genome Sequencing in Prenatal Detection of Chromosomal Abnormalities in an Indian Cohort
Akanksha M Tiwari, Kavyashree Padumale, Apoorva Bhandaru…·Aparna Ganapathy
This study evaluates low-pass whole genome sequencing for prenatal chromosomal abnormality detection in an Indian cohort, finding a 11.1% diagnostic yield with higher detection in first-trimester samples.
DOI 10.1101/2025.07.07.25330717