April 2023 Data Release

Our latest data release has 209 assay, 103 annotations, 11 gene perturbation and 2 single cell embeddings from tissues and cell types related to diabetes, diabetic complications, cardiovascular disease, musculoskeletal disease and many other common metabolic diseases.

• Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression - gene perturbation and diffrerential activity
• An integrated map of cell type-specific gene expression in pancreatic islets that includes differential gene activity, gene expression and single cell embedding of islet cell type-specific gene expression from 192,203 cells derived from single cell RNA-seq assays of 65 non-diabetic samples , T1D autoantibody positive (Aab+), T1D, and T2D donors from the Human Pancreas Analysis Program
• Total RNA-seq experimental data from HPAP

• Type 1 diabetes risk genes mediate pancreatic beta cell survival in response to proinflammatory cytokines

• A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk

• Transcriptional and Cellular Diversity of the Human Heart

• The developmental impacts of natural selection on human pelvic morphology

• ATAC-Seq analysis reveals a widespread decrease of chromatin accessibility in age-related macular degeneration

• Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci

• Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

• Common schizophrenia risk variants are enriched in open chromatin regions of human glutamatergic neurons

• Joint disease-specificity at the regulatory base-pair level

• Variant to Gene, Fine Mapped Variants, eQTL, sQTL and Differential Activity data from Genetic regulation of RNA splicing in human pancreatic islets