System and method of analysis and reporting of disease-related human genome mutant

摘要

It discloses a system and method of analysis and reporting of disease-related human genome mutant. The system and method includes the steps of or drawn out and receive disease-associated variant information, and storing the disease-associated variants information to the first data structure. Furthermore, the system and method includes a step of determining a step of identifying a plurality of genomic variants, one or more probabilities of at least one or more diseases associated with a plurality of genomic variants. For at least one or more of a plurality of genomic variants having at least one probability of higher than the threshold diseases, the system and method can be used verification module, also be carried out at least one verification of a plurality of genomic variants . Reports can be created to include the possibility of at least one disease and disorder.FIELD 3