Platform Updates

GTEx and dbNSFP for genes now available on VarSome

By Richard Meyer on March, 30 2020

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Richard Meyer

CTO

GTEx and dbNSFP for Genes

We are excited we can announce the availability of GTEx tissue-specific gene expression data and dbNSFP 4.0 Genes.

GTEx

The Genotype-Tissue Expression (GTEx) project is an ongoing effort to build a comprehensive public resource to study tissue-specific gene expression and regulation. Samples were collected from 54 non-diseased tissue sites across nearly 1000 individuals, primarily for molecular assays including WGS, WES, and RNA-Seq.

For each variant, VarSome will display the tissue expressions for the gene exon the variant is found in [Fig 1], and for the gene itself, VarSome will display an overview of the entire gene & all exons [Fig 2].

Figure 1. GTEx data for single variants.

Figure 1. Gene expression per tissue.

Figure 2. GETx data for genes.

Figure 2. Expression overview of the entire gene.

GTEx have a very comprehensive browser of their own, so please click the link to view the full data-set on their site, which offers further drill-down and detail of the transcript model.

dbNSFP 4.0 Genes

We have imported the latest dataset from dbNSFP for genes [Fig 3].

Figure 3. dbNSFP 4.0 Genes

Figure 3. dbSNFP for genes.

Coincidentally, this no longer includes gene tissue expressions which can be sourced from GTEx instead.

Let us know what you think!

As ever, we hope you find these new features useful, and look forward to any feedback or suggestions you may have. You may leave a comment right here or get in touch with us.

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