Analytical and clinical validation of a genome sequencing-based comprehensive rare disease genomic profiling test.
Shruthi Sriram, Sang‐Yeon Lee, Stephanie Ferguson, June‐Young Koh, Jonathan Kyle Wallace, Jeonghoon Lee, Jung‐Ah Kim, Yoonsuh Lee, Brian Baek-Lok Oh, Won Chul Lee, Sangmoon Lee, Erin Connolly-Strong
This study validates a whole-genome sequencing assay for rare disease genomic profiling, showing high sensitivity and positive predictive values for variant detection.
medRxiv · Oct 19, 2024 · PreprintGenetic & Genomic Medicine