Thursday, 07 July 2022

MedGenome launches novel AI-enabled software VarMiner

11 April 2022 | News

The software will aid to detect genetic variants for rare diseases and inherited cancers

Image credit: Shutterstock

Image credit: Shutterstock

MedGenome Labs has developed and launched VarMiner, an AI-enabled powerful variant interpretation software suite. The proprietary software will help clinicians, molecular geneticists, and genome analysts to interpret and report actionable variants.

 

VarMiner is powered by unique proprietary tools and databases to provide deeper insights into genetics with extreme accuracy and efficiency. 

 

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, haematology and solid tumour cases.

 

It 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. 

 

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