| 摘要 |
Systems and methods for disease associated human genomic variant analysis and reporting is disclosed. The systems and methods include receiving and extracting disease related variant information; storing the disease related variant information in a first data structure. Moreover, the system and methods include 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 that has 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 using the validation module. A report may be created to include at least a disease and the likelihood of the disease. |
