MedGenome launches AI-enabled variant interpretation software “VarMiner”

April 13, 2022 0 By Team FM

MedGenome Labs, one of the leading genomics research and diagnostics companies in South Asia, has developed and launched an AI-enabled variant interpretation software suite that can help improve diagnostic results under the brandname “VarMiner”. This proprietary software will help clinicians, molecular geneticists and genome analysts to interpret and report actionable variants, the company claimed in a media statement. 

“VarMiner, an ML-powered software, helps identifying the disease-causing variants rapidly and accurately from next-generation sequenced data,” says Dr Ravi Gupta, vice president-Bioinformatics, at MedGenome Labs.  

“Our solution streamlines the complex clinical report generation process and thus enables the diagnostics labs to scale up the diagnostic reporting. With this 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,” Dr Gupta added.

According to MedGenome, VarMiner supports various NGS Dx workflows, including germline analysis covering all rare diseases, inherited cancers, Mitochondrial genome analysis, PGx and HLA analysis; carrier/TRIO analysis such as combined analysis of familial samples to detect De-novo and common inherited variants and reporting; and somatic analysis like comprehensive analysis of cancer genomes with support for liquid biopsy, haematology and solid tumour cases.

We truly believe that VarMiner can help molecular diagnostics labs analyse and automate their NGS reports. While this is an initial version with high specificity, we are working on the next version that increases the algorithm’s sensitivity too,” said Dr Vedam Ramprasad, CEO, MedGenome Labs. 

Some of the key features of VarMiner 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, the company stated.

This software is more relevant in countries like India, where a large population is affected by rare diseases. As per industry data, India has an estimated 72 to 96 million people affected by rare diseases. Lack of awareness about these diseases is the biggest hindrance that limits the research done on these diseases and consequently the treatment. The first step towards understanding rare diseases is diagnosis. Moreover, rare diseases have mostly been proven to be genetic and can be diagnosed only via genomic testing.

Since MedGenome’s strength is genomics‐driven research and diagnostics, its unique access to genomics data with clinical and phenotypic data provides insights into complex diseases at the genetic and molecular level to facilitate research in personalised healthcare, stated the company release.