Leading genetics diagnostics lab in India, MedGenome Labs has launched VarMiner, an AI-enabled variant interpretation software suite. The diagnostic firm claims that this software will be very helpful for clinicians, genome analysts, and molecular geneticists in interpreting and reporting actionable genetic variants.
MedGenome Labs said that over 95 million people in India are suffering from rare diseases. A study by Organization of Rare Diseases in India has revealed that at least one in 20 Indians is affected by one of the rare diseases. The company said that lack of awareness is the biggest challenge in the process of diagnosis of rare diseases.
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 the software to identify the disease-causing variants rapidly and accurately from next-generation sequenced data.” He further added that their authenticated solution on a huge number of clinical samples will further enhance the diagnosis rate of rare Mendelian disorders, which has been a challenge in this field.
