A system for genetic data processing and interpretation: multifactorial disease risk calculation, carrier status, haplogroup estimation

Developments in the field of molecular genetics and bioinformatics are making way for the personalized medicine into clinical practice. One of the key specialties of the personalized medicine is genetic testing. In the work presented here the pipeline for processing and analyzing the genetic testing data generated by the DNA-microarrays and processed into the system of human biomedical data interpretation has been described and realized. The problems of preprocessing and quality control of the incoming genetic data have been addressed. In the work presented three parts of the interpretation system have been described: the module of multifactorial diseases risk calculations, the module of determining the monogenic diseases carrier status, and the module of haplogroup estimation. For the purpose of showcasing these elements the statistic of usage is presented using the real user data. Early sightings of the multifactorial diseases risks can in some cases reduce the impact of the outside factors on the illness development, such as bad eating habits, medicine usage, and lack of physical activity. The guidelines that could be formed based on this data: the diet, workout routine etc are a sought after service today. Heeding those guidelines before the patient develops the first symptoms of the illness could prevent the disease. Determining the monogenic diseases carrier status is a crucial practice for proper diagnostics of some pathlogical states and for the family planning. Estimation of maternal and paternal haplogroups, apart from carrying the persons ancestry, could also help finding the markers for pre-symptomatic diagnosis of diseases associated with certain haplogroups.