The Sampson lab uses computational genomics, bioinformatics and genetic epidemiology to discover novel NS-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 NS. 

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Interested in Submitting a Patients Sample?
Our study of the genetic basis of kidney diseases in children and adults is actively enrolling. Click here to learn more and to access the relevant consent and instructional documents.


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.

Check out Nephrotic Syndrome Variant Server (NephVS), our variant browser! This database has variant information from NEPTUNE. Click here to use our NephVS.
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.

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Recent News

  • Sampson Lab Hits ASN Kidney Week 2017 in NOLA The American Society of Nephrology (ASN) Kidney Week 2017 Annual Meeting has accepted 4 abstracts from Sampson Lab projects! Taking place in New Orleans from October 31 to November 5 ...
    Posted Aug 14, 2017, 10:56 AM by Kalyn Yasutake
  • "Nephrotic syndrome genomic discovery in era of Big Data" presentation posted Check our "Selected Publications" page for a modified version of our talk from the 2016 ASN Annual Meeting.
    Posted Aug 14, 2017, 10:55 AM by Kalyn Yasutake
  • Nephrotic Variant Server (NephVS) Beta 0.01 released We are excited to announce the release of NephVS, the Nephrotic Variant Server. The goal NephVS is to create a database composed of aggregated short-read sequencing and array-based ...
    Posted Aug 14, 2017, 10:55 AM by Kalyn Yasutake
  • tarSVM paper published Congrats to Chris Gillies for leading this study, in which we designed a novel method, tarSVM, to more accurately identify variants emerging from amplicon sequencing pipelines. Had a great time ...
    Posted Aug 14, 2017, 10:54 AM by Kalyn Yasutake
  • Pediatric APOL paper published Our paper describing the prevalence and clinical correlates of APOL1-related glomerular disease in 104 black children was published online today at "Nephrology Dialysis Transplantation". This was a wonderful collaboration ...
    Posted Apr 27, 2016, 7:25 AM by Matthew Sampson
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