The Sampson Lab uses computational genomics, bioinformatics, and genetic epidemiology to discover novel nephrotic syndrome associated variants and characterize the clinical implications for patients harboring them. We also seek to understand the prevalence, clinical correlates, and molecular mechanisms underlying known genetic forms of nephrotic syndrome.  NephVS Check out Nephrotic Syndrome Variant Server (NephVS), our variant browser! This database has variant information from NEPTUNE. Click here to use our NephVS.  NephVS eQTL Browser Check out our database 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, entrezId, or rsid to find a gene or variant of interest or see our list of the most significant eQTLs in glomerulus and tubulointerstitium. Click here to learn more.  GeneVetter 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. Click here to learn more about the tool and here to use it. GIMS/TIMS  We hypothesized that genes playing key roles in NS and glomerular diseases are under stronger negative selection compared to an average gene. Thus, we've used publicly available genetics resources and our 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). To learn more or use the tool click here. |  |