Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis
This diagnostic study examines the diagnostic yield and turnaround time of long-read sequencing compared to standard-of-care approaches.
Authors
- Melvin R. Scott
- Ana S.A. Cohen (ORCID: https://orcid.org/0000-0002-6353-6350)
- Florencia Del Viso
- Isabelle Thiffault
- Boryana Koseva (ORCID: https://orcid.org/0000-0002-8889-9377)
- Adam F. Johnson (ORCID: https://orcid.org/0000-0003-0004-9755)
- Elin Grundberg (ORCID: https://orcid.org/0000-0001-5415-7896)
- Warren Cheung (ORCID: https://orcid.org/0000-0003-0267-7464)
- Carl Schwendinger-Schreck
- John C. Means
- Jeffrey Johnston (ORCID: https://orcid.org/0000-0002-8962-6186)
- Byunggil Yoo (ORCID: https://orcid.org/0000-0002-7912-1862)
- Cassandra Barrett (ORCID: https://orcid.org/0000-0003-0756-2180)
- John Herriges (ORCID: https://orcid.org/0000-0002-4478-6450)
- Vitoria Paolillo
- Amy Perrin Ross
- Emily Farrow (ORCID: https://orcid.org/0000-0001-7498-1161)
- Lei Zhang (ORCID: https://orcid.org/0000-0001-7409-6090)
- Margaret Gibson
- Tomi Pastinen
- Carol J. Saunders
- Chengpeng Bi
- Rebecca McLennan
- Joe Alaimo
Institutions
- Children's Mercy Hospital (US)
Publication Details
- Journal
- JAMA Pediatrics
- Published
- 2025-09-22
- DOI
- https://doi.org/10.1001/jamapediatrics.2025.3320
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45