Systems and methods for disease associated human genomic variant analysis and reporting

A non-transitory computer-readable storage medium comprising computer-executable instructions that direct a computing system to:

• receive and extract disease related variant information;
• store the disease related variant information in a first data structure;
• for each of a plurality of genomic sequences associated with a person, identify a plurality of genomic variants via the variant analysis module;
• store the plurality of genomic variants in a second data structure;
• determine one or more probability of disease associated with at least one or more of the plurality of genomic variants via the at least one of the one or more statistics modules and the disease related variant information stored in the first data structure,
• 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, obtain validation of the at least one of the plurality of genomic variants using the validation module;
• in response to determining that validation of the at least one of the plurality of genomic variants is obtained, create a report via the reporting module, wherein the report comprises at least:
• a disease and the likelihood of the disease, wherein the likelihood of disease is determined based at least in part on the one or more statistics modules and the disease related variant information stored in the first data structure.

A computer implemented method for genomic variant analysis, the computer-implemented method comprising:

• receiving and extracting disease related variant information;
• storing the disease related variant information in a first data structure;
• for each of a plurality of genomic sequences associated with a person, identifying a plurality of genomic variants via the variant analysis module;
• storing the plurality of genomic variants in a second data structure;
• determining one or more probability of disease associated with at least one or more of the plurality of genomic variants via the at least one of the one or more statistics modules and the disease related variant information stored in the first data structure,
• 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, obtaining validation of the at least one of the plurality of genomic variants using the validation module;
• in response to determining that validation of the at least one of the plurality of genomic variants is obtained, creating a report via the reporting module, wherein the report comprises at least:
• a disease and the likelihood of the disease, wherein the likelihood of disease is determined based at least in part on the one or more statistics modules and the disease related variant information stored in the first data structure.