Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR Testing
Yueyao Gao, Sarah T. South, Colyn B. Cargile, Julie L Cox, Mark Fleharty, Benjamin Hilton, Katie L. Larkin, Guang Li, David W Marsh, Victoria Popic, Reha M. Toydemir, Sean E. Hofherr, Niall J. Lennon, Peter H Bui
This study shows that whole-genome sequencing can replace chromosomal microarray and Fragile X testing with higher accuracy and broader coverage for genetic disorders.
medRxiv · May 24, 2025 · PreprintGenetic & Genomic Medicine