The abstract is read at the publisher; the summary is JClub's.
Long-read whole-genome sequencing plus pangenomes in 211 neurodevelopmental disorder cases identified pathogenic or likely pathogenic variants in 38.9% (82/211), including repeat expansions and large ROHs.
- Why it matters: Many NDD diagnoses remain unresolved, and the shortfall is larger for populations underrepresented in genomic reference resources, limiting variant discovery and clinical interpretation.
- What they did: The study assembled 211 cases and 107 unaffected relatives across 24 populations, integrating 1204 haplotypes using HPRC_r2 and APR, then interpreted small variants, SVs, repeat expansions, and ROHs.
- The result: Pathogenic repeat expansions occurred in 3.8% and ROHs >300 Mb in 4.7% of cases, while pangenome analysis added 3.9 million novel small variants, 39,782 SVs, and 2.17 Mb novel sequence per individual.
The findingWhy it mattersWhat they didThe result
AI summary of the abstract · may contain errors · not medical advice · read the paper.