Human Genetics

Human Genetics

According to the Precision Medicine Initiative, precision medicine is "...an emerging approach for disease treatment and prevention that takes into account individual variability in genes… to predict more accurately which treatment will work …". Such variability in genes is well elucidated by sequencing informative regions of the patient’s genome and can be useful for risk assessment, for predictive or prognostic purposes, or for therapeutic selection, in both hereditary and neoplastic diseases.
SmartGene’s deepest foray to date into human genetics applications is the HLA module, which supports high resolution HLA typing by sequencing. Analysis of HLA genes is used to assess an individual’s immune system, with regard to organ and bone-marrow transplantation or in the context of chronic infections or auto-immune diseases. Sanger-based or NGS technologies can be applied to generate the sequence data. SmartGene’s HLA module enables easy mapping of exons, assessment of intronic patterns (including user-defined ones) and classifies the allele results using international nomenclature. Importantly, SmartGene keeps the reference data and allele lists up-to-date and enables easy re-interpretation and re-typing of archived cases, ensuring most meaningful and up-to-date results and reports.