Long-read sequencing reveals structural variants underlying schizophrenia in the Chinese population
Peer-Reviewed Publication
Updates every hour. Last Updated: 31-Dec-2025 14:11 ET (31-Dec-2025 19:11 GMT/UTC)
Researchers at Fudan University established the first cohort-scale long-read sequencing (LRS) resource for schizophrenia, comprising 141 Chinese cases (CN_SCZ), to systematically characterize structural variants (SVs) often missed by short-read sequencing. On average, 16,408 SVs were identified per sample. Schizophrenia-specific SVs were enriched in known genomic hotspots, such as 16p12.1, and showed a strong tendency for tandem repeat expansions. Using their in-house tool SVJudge, the team identified 358 potentially pathogenic SVs, including 197 predicted to disrupt transcription factor binding in brain regulatory networks. From these variants, 82 risk genes were prioritized—23 newly implicated—and found enriched in neurodevelopmental and synaptic pathways. These findings refine the genetic landscape of schizophrenia and offer new insights for future mechanistic and therapeutic research.
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