Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis
用于遗传疾病诊断的临床长读长测序检测
期刊:Jama Pediatrics
影响因子:18
doi:10.1001/jamapediatrics.2025.3320
Thiffault, Isabelle; Farrow, Emily; Barrett, Cassandra; Scott, Meadow; Ross, Amy; Means, John C; Cheung, Warren A; Johnson, Adam F; Koseva, Boryana; McLennan, Rebecca; Grundberg, Elin; Bi, Chengpeng; Schwendinger-Schreck, Carl; Yoo, Byunggil; Johnston, Jeffrey J; Del Viso, Florencia; Paolillo, Vitoria; Herriges, John; Zhang, Lei; Gibson, Margaret; Cohen, Ana S A; Alaimo, Joe; Saunders, Carol J; Pastinen, Tomi