Tools and Datasets | Overview
GWAS summary statistics
Download the full set of summary statistics for our 2018 Genome Wide Association Study of pediatric steroid sensitive nephrotic syndrome (SSNS) from the GWAS catalog here.
Glomerular and tubulointerstitial gene expression data (microarray)
Our Nephrotic Syndrome Variant Server (NephVS) is a browser comprised of aggregated short-read sequencing and array-based genotype data from more than 322 patients with nephrotic syndrome and other proteinuric kidney diseases. Use NephVS.
NephQTL is a browser of cis-eQTLs of the glomerular and tubulointerstitial tissues of the kidney found in 187 participants in the NEPTUNE cohort. You can use a gene symbol, or entrezId, or SNP to find a gene or variant of interest or see our list of the most significant eQTLs in glomerulus and tubulointerstitium. Learn more. You can also download (1) Matrix eQTL results (glomerulus and tubulointerstitial) and (2) single cell RNA-Seq (4734 cells from three tumor nephrectomy samples) here.
GeneVetter is a tool designed to investigate the background prevalence of exonic variation in the Phase 3 1000 Genomes data under user defined filtering criteria. It can also be used for comparing a user-specified VCF (Variant Call Format) file to the 1000 Genomes subjects. Use it here.
We hypothesized that genes playing key roles in nephrotic syndrome are under stronger negative selection compared to an average gene. Thus, we've used publicly available genetics and comparative genomics resources to create a genome-wide, Gene-level Integrated Metric of negative Selection (GIMS) for each human gene and Transcript-level Integrated Metric of negative Selection (TIMS). This tool can be applicable to any gene or disease/condition. Learn more or use the tool here.