Year: 2025
Type: article
Study design: Observational Study
Abstract: This diagnostic study examines the diagnostic yield and turnaround time of long-read sequencing compared to standard-of-care approaches.
Authors: Isabelle Thiffault, Emily Farrow, Cassandra Barrett, Meadow Scott, Amy Ross, John C. Means, Warren A. Cheung, Adam F. Johnson, Boryana Koseva, Rebecca McLennan, Elin Grundberg, Chengpeng Bi, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Florencia Del Viso, Vitoria Paolillo, John Herriges, Lei Zhang, Margaret Gibson, Ana S. A. Cohen, Joe Alaimo, Carol J. Saunders, Tomi Pastinen
Institution: Children's Mercy Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4414383602