Project

VarFish

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Keywords

The Go-To Genome Interpretation Platform for Clinicians in Labs and Academic Centers

Stage 1

Project Website

An individual’s genetic setup controls a large part of their health. While understanding this is unbelievably valuable for clinical decision making, interpreting and making sense of this data remains a slow and laborious
process. For patients with one of more than 6.000 different rare diseases – making up more than 250 million people worldwide – this adds to an already long and strenuous diagnostic journey. Even with whole genome sequencing over 50% of cases go unsolved.
A major bottleneck here is the interpretation of genetic data. Finding the key variant which causes the disease requires fishing in a large “genetic pool” of millions of benign variants. This process is still highly manual, requiring a complex workup that takes a trained geneticist multiple hours per case.

Manuel Holtgrewe
Manuel Holtgrewe
(BIH)
Lara Einicke
Lara Einicke
(BIH)
Max Xiaohang Zhao
Max Xiaohang Zhao
(Charité, BIH)

VarFish introduces a clinic focused digital solution that aims to make genetic testing faster and more efficient. VarFish’s geneticist-focused software platform automates major parts of the diagnostic workflow, significantly speeding up diagnoses.
Created by geneticists and bioinformaticians with years of experience in rare disease diagnostics, this platform addresses the unique requirements of expert clinicians: It allows easy filtering using complex rules, annotating of variants with machine learning models, and quick access to information on gene-disease associations. Through built-in data sharing capabilities, such insights can then easily be discussed with experts and shared in public variant databases.

All these features reduce the time required to assess genetic variants by over half, or seven hours per case. Diagnostic labs performing whole genome analysis can benefit from a robust database that integrates multiple prediction models. For patients, the result is faster diagnoses, which can lead to specific treatments for their disease.

VarFish’s team consists of an experienced bioinformatician and geneticists with multiple years of whole genome interpretation experience and research experience in high performance computing and machine learning.

VarFish envisions in to be the primary genome interpretation platform for labs and university hospitals across Europe and beyond, as whole genome sequencing becomes vital in diagnostics.