New GnomAD Genes component on VarSome

By Richard Meyer on August, 20 2020

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Richard Meyer


We are very excited that our continuous search to improve and enrich the content provided on VarSome has resulted in the integration of the new GnomAD Genes component with the release of VarSome 8.4.1.

The GnomAD component is found in the gene page just above the ExAC genes component (which will be retired). It consists of distinct tables providing general information about the canonical transcript of the gene, the loss-of-function (LOF) probabilities, other metrics for different types of variants and population frequencies of LOF variants for this transcript. 



Let us know what you think!

Please take a look at these new features, which we hope will be a useful ally to your variant analysis needs, and don’t hesitate to provide us with any feedback or suggestions you may have. You may leave a comment right here or get in touch with us.


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