Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis.

Creator(s)

Isabelle Thiffault, Children's Mercy HospitalFollow
Emily G. Farrow, Children's Mercy HospitalFollow
Cassandra Barrett, Children's Mercy Kansas CityFollow
Meadow Scott, Children's Mercy Kansas City
Amy Ross, Children's Mercy Kansas CityFollow
John C. Means, Children's Mercy HospitalFollow
Warren A. Cheung, Children's Mercy HospitalFollow
Adam F. Johnson, Children's Mercy Kansas CityFollow
Boryana Koseva, Children's Mercy HospitalFollow
Rebecca McLennan, Children's Mercy HospitalFollow
Elin Grundberg, Children's Mercy HospitalFollow
Chengpeng Bi, Children's Mercy HospitalsFollow
Carl F. Schreck, Children's Mercy Kansas CityFollow
Byunggil Yoo, Children's Mercy HospitalFollow
Jeffrey J. Johnston, Children's Mercy HospitalFollow
Florencia Del Viso, Children's Mercy HospitalFollow
Vitoria Paolillo, Children's Mercy Kansas CityFollow
John Herriges, Children's Mercy HospitalFollow
Lei Zhang, Children's Mercy HospitalFollow
Margaret Gibson, Children's Mercy HospitalFollow
Ana S A Cohen, Children's Mercy HospitalFollow
Joseph Alaimo, Children's Mercy HospitalFollow
Carol J. Saunders, Children's Mercy HospitalFollow
Tomi Pastinen, Children's Mercy HospitalFollow

Document Type

Letter to the Editor

Publication Date

12-1-2025

Identifier

DOI: 10.1001/jamapediatrics.2025.3320; PMCID: PMC12455484

Abstract

This diagnostic study examines the diagnostic yield and turnaround time of long-read sequencing compared to standard-of-care approaches.

Journal Title

JAMA Pediatr

Volume

179

Issue

12

First Page

1355

Last Page

1357

PubMed ID

40982260

Comments

This is an open access article distributed under the terms of the CC-BY License. 

Publisher's Link: https://jamanetwork.com/journals/jamapediatrics/fullarticle/2838675#250679184

Recommended Citation

Thiffault I, Farrow E, Barrett C, et al. Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis. JAMA Pediatr. 2025;179(12):1355-1357. doi:10.1001/jamapediatrics.2025.3320