The software can accurately predict and rank a pathogenic variant in 90% of rare diseases cases with no or minimum manual intervention

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

India has an estimated 72 to 96 million people affected by rare diseases. As the lack of awareness is the biggest hindrance, it faces towards research done on these diseases and consequently the treatment, the first step towards understanding rare diseases should be the diagnosis. Rare diseases have mostly been proven to be genetic and can be diagnosed via genomic testing. VarMiner is powered by unique proprietary tools and databases to provide deeper insights into genetics with extreme accuracy and efficiency.

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

VarMiner supports various NGS Dx workflows

• Germline Analysis – Covers all rare diseases, inherited cancers, Mitochondrial genome analysis, PGx and HLA analysis
• Carrier/TRIO Analysis – Combined Analysis of familial samples to detect De-novo and common inherited variants and reporting
• Somatic Analysis – Comprehensive analysis of cancer genomes with support for Liquid Biopsy, Hematology and Solid tumour cases

Commenting on the launch, Dr Vedam Ramprasad, CEO, MedGenome Labs, said, “Decoding genetic information is the core of everything we do. Today, we are immensely proud to launch this ML-enabled variant interpretation software suite, with which we can move towards a healthcare system more rooted in prevention rather than just treatment. We truly believe that VarMiner can help Molecular diagnostics labs in India and globally analyse and automate their NGS reports. While this is an initial version with high specificity, we are working on the next version that increase the algorithm’s sensitivity too.”

VarMiner is an efficient tool for detecting genomic variants in all rare diseases, inherited cancers, as well as for conducting mitochondrial genome analysis, PGx and HLA analysis. It offers out-of-box clinically validated analysis workflows for germline, somatic and pre-natal NGS tests. Some of the key features that enable the core analysis are the ML-ranking of causal variants, Symptoms and phenotype-based variant mapper, automated ACMG Classification, sample-variant quality metrics and advanced annotations.