Chelsea Lowther, Elise Valkanas, Jessica L Giordano, Harold Z Wang, Benjamin B Currall, Kathryn O'Keefe, Emma Pierce-Hoffman, Nehir E Kurtas, Christopher W Whelan, Stephanie P Hao, Ben Weisburd, Vahid Jalili, Jack Fu, Isaac Wong, Ryan L Collins, Xuefang Zhao, Christina A Austin-Tse, Emily Evangelista, Gabrielle Lemire, Vimla S Aggarwal, Diane Lucente, Laura D Gauthier, Charlotte Tolonen, Nareh Sahakian, Christine Stevens, Joon-Yong An, Shan Dong, Mary E Norton, Tippi C MacKenzie, Bernie Devlin, Kelly Gilmore, Bradford C Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan J Sanders, Daniel G MacArthur, Jennelle C Hodge, Anne O'Donnell-Luria, Heidi L Rehm, Neeta L Vora, Brynn Levy, Harrison Brand, Ronald J Wapner, Michael E Talkowski
Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal structural anomalies (FSAs). However, few studies have comprehensively evaluated its performance against current standard-of-care diagnostic tests: karyotype, chromosomal microarray (CMA), and exome sequencing (ES). To assess the clinical utility of GS, we compared its diagnostic yield against these three tests in 1,612 quartet families including an individual with ASD and in 295 prenatal families...
August 16, 2023: American Journal of Human Genetics