Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
In a clinical diagnostic setting, long-read GS proved to be a streamlined, first-line test, capturing the full spectrum of disease-causing variants, reducing the need for follow-up testing and enabling more precise interpretation. While the overall diagnostic yield may be comparable to that of short-read approaches, long-read GS offers significant added value across multiple variant types.
Authors
- Jesper Eisfeldt (ORCID: https://orcid.org/0000-0003-3716-4917)
- Simon Opstrup Drue (ORCID: https://orcid.org/0000-0002-1401-6527)
- Marlene Ek (ORCID: https://orcid.org/0000-0001-6611-309X)
- Anna Lyander (ORCID: https://orcid.org/0000-0003-3160-9903)
- Håkan Thonberg (ORCID: https://orcid.org/0000-0003-4503-4717)
- Linnéa La Fleur (ORCID: https://orcid.org/0000-0001-5638-9818)
- Esmee ten Berk de Boer
- Valtteri Wirta (ORCID: https://orcid.org/0000-0003-3811-5439)
- Ann Nordgren
- Lena Ljöstad
- Anna Lindstrand
- Søren Lejsted Faergeman
- Malin Kvarnung
- Maria Johansson Soller
Institutions
- Karolinska University Hospital (SE)
- Science for Life Laboratory (SE)
- Sahlgrenska University Hospital (SE)
- Aarhus University Hospital (DK)
- Karolinska Institutet (SE)
- KTH Royal Institute of Technology (SE)
- University of Gothenburg (SE)
Publication Details
- Journal
- Genome Medicine
- Published
- 2026-01-09
- DOI
- https://doi.org/10.1186/s13073-025-01596-5
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 30.93