Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease.

Autor: Larizza L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Watson CM; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, United Kingdom.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, United States., Finelli P; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, University of Milan, Milan, Italy.; Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Jazyk: angličtina
Zdroj: Frontiers in genetics [Front Genet] 2024 Oct 04; Vol. 15, pp. 1494860. Date of Electronic Publication: 2024 Oct 04 (Print Publication: 2024).
DOI: 10.3389/fgene.2024.1494860
Abstrakt: Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.
Databáze: MEDLINE