SYSTEMS AND METHODS FOR DISEASE-ASSOCIATED HUMAN GENOMIC VARIANT ANALYSIS AND REPORTING

摘要

PROBLEM TO BE SOLVED: To provide systems and methods for disease-associated human genomic variant analysis and reporting.SOLUTION: Systems and methods include steps of: receiving and extracting disease-related variant information; and storing the disease-related variant information in a first data structure. The systems and methods include steps of: identifying a plurality of genomic variants; and determining one or more probability of disease associated with at least one or more of the plurality of genomic variants. For at least one or more of the plurality of genomic variants with at least one probability of disease that is greater than a threshold, the systems and methods may also obtain validation of the at least one of the plurality of genomic variants by using a validation module. A report may be created to include at least one disease and the likelihood of the disease.SELECTED DRAWING: Figure 3