| Abstract [eng] |
The development of the KATH system represents a novel approach to addressing critical challenges in modern genetic research, particularly in integrating diverse DNA analysis tools and databases. Developed in collaboration with researchers from Harvard University, KATH serves as a comprehensive platform designed to assist geneticists in managing, analyzing, and interpreting DNA data. The system facilitates seamless access to key genetic databases, including Clinvar, gnomAD, and LOVD, while integrating advanced DNA analysis tools such as CADD and REVEL. KATH’s architecture allows for the incorporation of additional algorithms, positioning it as a scalable and flexible solution for diverse research needs. A key feature of KATH is its support for open-data publication standards, enabling researchers to share and validate workflows with the broader scientific community. In this study, we demonstrate the capabilities of KATH by analyzing ancient DNA sequences obtained from three sets of mummified remains published on the NIH website. We applied KATH’s integrated tools to identify pathogenic gene mutations and conducted a comparative analysis with the reference human genome. Our results highlight the system’s ability to efficiently process and analyze complex genetic data, providing critical insights into the genetic makeup of populations and offering broader implications for evolutionary biology and disease research. The KATH platform represents a significant advancement in genetic research by combining data integration, workflow sharing, and commercialization opportunities in a user-friendly environment. Its potential for rapid validation and verification of results and the ability to facilitate cross-disciplinary collaborations underscores its value as a transformative tool for geneticists and researchers worldwide. |
