Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test
Deanna Brockman, Christina Anne Austin-Tse, Renée C. Pelletier, Caroline Harley, Candace Patterson, Holly Head, Courtney Elizabeth Leonard, Kimberly O’Brien, Lisa Mahanta, Matthew S. Lebo, Christine Y. Lu, Pradeep Natarajan, Amit V. Khera, Krishna G. Aragam, Sekar Kathiresan, , Miriam S. Udler
This study compares genome sequencing with standard-of-care genetic testing, finding similar diagnostic yields but longer turnaround times for genome sequencing.
Genetics in Medicine · May 11, 2021Peer-reviewedGenetic & Genomic Medicine