Ekaterina Tolmacheva's Contact Details

Ekaterina Tolmacheva's Company Details

Independent Clinical Bioinformatics Laboratory

Moscow, , Russia • 4 Employees
Biotechnology

ICBL is an independent team of professionals in the interpretation of genomic information: system biologists, bioinformaticians, medical doctors. We help sequencing labs to identify causative mutations in rare diseases with our high-throughput, yet thorough data analysis and variant interpretation services. Our results allowed for establishing accurate clinical diagnosis to thousands of patients with hereditary diseases: myopathy, osteogenesis imperfecta, epileptic encephalopathy, vision and hearing loss, as well as other hereditary disabilities including complex syndromes.Our valued clients also take advantage of custom-built tools we make for specific tasks like automated sample processing in reproductive genetics, report generation, or managing variant databases.