Author

Kai Wang

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Open access Sep 2026

Analysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia

In this study, we present the largest rare coding variant association study of schizophrenia to date, with 87,959 schizophrenia cases and 150,587 controls. We identify 16 genes at exome-wide significance: SETD1A, ZMYM2, HERC1, RB1CC1, SCAF1, XPO7, SP4, FYN, PPP3CA, CUL1, HDAC9, JARID2, ATP9A, PTK2, STAG1, and SCN2A, an...

J. Sealock, C. Dowd, Calwing Liao et al. · bioRxiv · 1 citation

Open access Sep 2026

Long-read based detection of large copy number variants with potential functional significance using the ContextSV structural variant caller

ContextSV, a framework that integrates alignment evidence with copy number predictions derived from sequencing coverage and single-nucleotide variant allele frequencies to improve SV detection, serves as a valuable complement to existing long-read SV detection approaches by improving sensitivity for large and clinicall...

J. E. Perdomo, Mian Umair Ahsan, Jasmine Akoto et al. · NAR Genomics and Bioinformat... · 0 citations