O52: Diagnostic benefits of long-read genome sequencing for short-read negative rare disease cases
Next generation genome and exome sequencing technologies have revolutionized approaches to molecular diagnosis of patients with rare monogenic diseases. Depending on inclusion criteria and clinical indication, diagnostic rates typically vary between 10-50% of patients subjected to clinical or research-based testing. Traditional short-read technologies have relatively low error rates, the ability to generate high read-depth datasets, and are highly sensitive for identifying single nucleotide variants (SNVs) and small insertions and deletions (indels).
Authors
- Monica H. Wojcik (ORCID: https://orcid.org/0000-0002-8162-5031)
- Médéric Jeanne (ORCID: https://orcid.org/0000-0003-1136-8890)
- Malika Sud (ORCID: https://orcid.org/0000-0001-9258-7029)
- Priyesh Rughani
- Sissel Juul (ORCID: https://orcid.org/0000-0002-0315-4449)
- Miten Jain (ORCID: https://orcid.org/0000-0002-4571-3982)
- Wanqing Shao (ORCID: https://orcid.org/0000-0003-4234-2095)
- Bryan A. Leland
- Piotr Sliz (ORCID: https://orcid.org/0000-0002-6522-0835)
- Tina Truong (ORCID: https://orcid.org/0000-0002-8149-4019)
- Scott Hickey (ORCID: https://orcid.org/0009-0009-0785-677X)
- Mehmet Buğrahan Düz (ORCID: https://orcid.org/0000-0003-2140-5456)
- Catherine A. Brownstein (ORCID: https://orcid.org/0000-0002-7371-0340)
- Rebecca L. Stubbs (ORCID: https://orcid.org/0000-0001-7386-2830)
- Alan H. Beggs (ORCID: https://orcid.org/0000-0001-8818-0568)
- Kshitij Amar (ORCID: https://orcid.org/0000-0002-8365-7942)
- Kenney Tuyen (ORCID: https://orcid.org/0000-0003-2562-3119)
- Carly Tyer
- Shirlee Shril (ORCID: https://orcid.org/0000-0003-4218-7566)
- Luca Schierbaum (ORCID: https://orcid.org/0009-0002-4884-9647)
- Casie A. Genetti (ORCID: https://orcid.org/0000-0003-4173-9947)
- Pravata Kumar Pradhan
- Wendy Chung
- Friedhelm Hildebrandt (ORCID: https://orcid.org/0000-0003-2655-387X)
- Talia Tzadikario
- Nathaniel Edisis
Institutions
- Boston Children's Hospital (US)
- Boston Children's Museum (US)
- Oxford Nanopore Technologies (United Kingdom) (GB)
- Universidad del Noreste (MX)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102479
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00