MedGenome launches VarMiner, a new analysis software based on machine learning to detect genetic variants of rare diseases and inherited cancers


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MedGenome launches VarMiner, a new analysis software based on machine learning to detect genetic variants of rare diseases and inherited cancers

Posted on April 11, 2022

Software can accurately predict and classify pathogenic variant in 90% of rare disease cases with no or minimal manual intervention

To improve diagnostic outcomes in South Asia, MedGenome Labs, South Asia’s leading genomics research and diagnostics company, has developed and launched VarMiner, a powerful AI-enabled variant interpretation software suite . This proprietary software will help clinicians, molecular geneticists and genome analysts interpret and flag actionable variants.

India has around 72-96 million people affected by rare diseases. As lack of awareness is the biggest barrier it faces to research being done on these diseases and consequently to treatment, the first step towards understanding rare diseases should be diagnosis. It has been proven that rare diseases are mostly genetic and can be diagnosed by genomic testing. VarMiner is powered by unique proprietary tools and databases to deliver deeper genetic insights with extreme accuracy and efficiency.

Dr. Ravi Gupta, Vice President of Bioinformatics, MedGenome Labs, said“Identifying the causative variant(s) in a patient with a rare disease is like pointing a finger at a needle in a haystack. MedGenome has developed ML-powered software, “VarMiner”, to quickly identify and accurately pathogenic variants from next-generation sequenced data.Our solution streamlines the complex process of clinical reporting thus enabling diagnostic laboratories in India and globally to scale up diagnostic reporting.With our validated solution on a large number of clinical samples, we believe it will further improve the rate of diagnosis of rare Mendelian disorders, which has been a challenge in this field.

VarMiner supports various NGS Dx workflows

  • Germline Analysis – Covers all rare diseases, hereditary cancers, mitochondrial genome analysis, PGx and HLA analysis
  • Carrier/TRIO analysis – Combined analysis of family samples to detect de novo and common inherited variants and ratios

Somatic Analysis – Complete analysis of cancer genomes with support for liquid biopsy, hematology and solid tumor cases

Commenting on the launch, Dr. Vedam Ramprasad, CEO of MedGenome Labs, said, “Decoding genetic information is at the heart of everything we do. Today, we are extremely proud to launch this ML-enabled variant interpretation software suite, with which we can move towards a healthcare system that is more rooted in prevention rather than just treatment. We are confident that VarMiner can help molecular diagnostic labs in India and analyze and automate their NGS reports globally. Although this is an initial version with high specificity, we are working on the next version which will also increase the sensitivity of the algorithm.

VarMiner is an effective tool for detecting genomic variants in all rare diseases, hereditary cancers, as well as performing mitochondrial genome analysis, PGx and HLA analysis. It offers ready-to-use clinically validated analysis workflows for germline, somatic and prenatal NGS testing. Some of the key features that enable basic analysis are ML ranking of causal variants, symptom and phenotype-based variant mapper, automated ACMG classification, sample variant quality metrics, and advanced annotations.

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