Author

M. Boehnke

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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 Aug 2026

Integrated Analysis of Skeletal Muscle Transcriptional Networks Characterizes Dysregulation in Pathways and Trait-Associated Regulatory Regions in Type 2 Diabetes

Together, the results reveal dysregulation in pathways in muscle tissue from individuals with diabetes, identify candidate drivers, and connect the genomic drivers of this dysregulation across type 2 diabetes and related metabolic traits.

A. Maddox, Nandini Manickam, Peter Orchard et al. · bioRxiv · 0 citations

Open access Aug 2026

Erosion of regenerative regulation: age-associated shifts in the skeletal muscle fiber epigenome and transcriptome

Together, these findings identify an age-associated regulatory shift, largely invisible in matched transcriptomic data, characterized by closing chromatin which reduces accessibility to hormone receptor binding sites and enhancer regions in the muscle fiber epigenome.

Keagan G. Moo, Peter Orchard, Arushi Varshney et al. · bioRxiv · 0 citations