Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort
, one case resolved via haplotype phasing of compound heterozygous SNVs without parental samples and one case where LR-GS detected an allele missed due to coverage gaps. An additional eight probands (21%) harboured variants technically detectable by SRS but were missed due to newly associated genes, synonymous variants lacking splicing evaluation or prior analytic pipelines. LR-GS substantially increases diagnostic yield in unsolved infantile-onset DEE, supporting its incorporation into clinical workflows as a second-tier genetic test for otherwise unsolved neurodevelopmental disorders.
Authors
- Ponghatai Boonsimma (ORCID: https://orcid.org/0000-0002-2414-7010)
- Songphon Kanlayaprasit (ORCID: https://orcid.org/0000-0002-4367-3622)
- Wuttichart Kamolvisit
- Wanna Chetruengchai (ORCID: https://orcid.org/0000-0003-2495-6595)
- Vorasuk Shotelersuk (ORCID: https://orcid.org/0000-0002-1856-0589)
- Chanatjit Cheawsamoot
- Adjima Assawapitaksakul
- Tayard Desudchit
- Phawin Kor‐anantakul (ORCID: https://orcid.org/0000-0001-9318-3974)
- Sathida Poonmaksatit (ORCID: https://orcid.org/0009-0006-6333-0439)
- Krisnachai Chomtho
- Rungroj Thangpong
Institutions
- Chulalongkorn University (TH)
- King Chulalongkorn Memorial Hospital (TH)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2026-04-27
- DOI
- https://doi.org/10.1136/jmg-2026-111514
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00