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Article

Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort.

Journal of medical genetics - 23 Jul 2026

Cheawsamoot Chanatjit, Thangpong Rungroj, Chetruengchai Wanna, Kanlayaprasit Songphon, Kamolvisit Wuttichart, Kor-Anantakul Phawin, Assawapitaksakul Adjima, Boonsimma Ponghatai, Poonmaksatit Sathida, Chomtho Krisnachai, Desudchit Tayard, Shotelersuk Vorasuk

Abstract excerpt

Developmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain undiagnosed after short-read sequencing (SRS). We assessed long-read genome sequencing (LR-GS) in 38 previously unsolved infantile-onset DEE probands (10 singletons, 28 trios). Variant detection included single nucleotide...

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PMID: 42045022
DOI: 10.1136/jmg-2026-111514

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NSF

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