Overview of the analytical framework for SVs from the CN_SCZ cohort. (IMAGE)
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Top: A cohort of 141 Chinese schizophrenia cases was sequenced using PacBio CLR, with structural variants (SVs) detected by multiple callers (cuteSV, pbsv, Sniffles2, and SVIM), and high-confidence results obtained through merging and filtering with Jasmine.
Bottom left: Schizophrenia-specific SVs were enriched in known genomic hotspots and showed a strong tendency toward tandem repeat expansions in regulatory and coding regions.
Bottom right: Using the in-house framework SVJudge to integrate public controls and functional annotations, researchers uncovered pathogenic SVs disrupting transcription factor binding and highlighted risk genes involved in neurodevelopment and synaptic function.
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