Method and system for estimating genomic health

A method comprising:

• estimating overall genomic health of a sexually reproducing organism or its virtual presentation, wherein said estimating comprises:
• in a set-up phase:
• storing information on a plurality of hereditary diseases potentially affecting a species of the sexually reproducing organism;
• for each hereditary disease in the plurality of hereditary diseases:
• determining a risk for that disease for a plurality of allele combinations in a specimen of the species;
• determining a degree of severity in the species;
• wherein the risk and severity are commensurate;
• in a specimen-specific phase:
• for each hereditary disease:
• determining a risk for the specimen to have the hereditary disease from the from the specimen's genotype;
• assigning a default risk which is between 0.2 and 0.8 of the range of values for the risk, if the hereditary disease exhibits Mendelian inheritance and if the specimen is a carrier of the disease;
• multiplying the risk for the hereditary disease by an expansive function of the severity;
• and
• calculating a statistically representative value of the multiplied risks.

A data processing system comprising:

• a memory system for storing program code instructions and data;
• a processing system including at least one processing unit, wherein the processing system executes at least a portion of the program code instructions and processes the data;
• an interface for receiving data representative of a genotype of a each of a plurality of sexually reproducing organims;
• wherein the memory system stores program code instructions that, when executed by the processing system, instruct the processing system to estimate an overall genomic health of a sexually reproducing organism or its virtual presentation, wherein said estimating comprises:
• in a set-up phase:
• storing information on a plurality of hereditary diseases potentially affecting a species of a sexually reproducing organism;
• for each hereditary disease in the plurality of hereditary diseases:
• determining a risk for that disease for a plurality of allele combinations in a specimen of the species;
• determining a degree of severity in the species;
• wherein the risk and severity are commensurate;
• in a specimen-specific phase:
• for each hereditary disease:
• determining a risk for the specimen to have the hereditary disease from the from the specimen's genotype;
• assigning a default risk which is between 0.2 and 0.8 of the range of values for the risk, if the hereditary disease exhibits Mendelian inheritance and if the specimen is a carrier of the disease;
• multiplying the risk for the hereditary disease by an expansive function of the severity;
• and
• calculating a statistically representative value of the multiplied risks.

A tangible non-transitory program carrier comprising program code instructions for a data processing system, wherein the data processing system comprises:

• a memory system for storing program code instructions and data;
• a processing system including at least one processing unit, wherein the processing system executes at least a portion of the program code instructions and processes the data;
• and an interface for receiving data representative of a genotype of a each of a plurality of sexually reproducing organims;
• wherein the tangible non-transitory program carrier comprises program code instructions that, when executed by the processing system, instruct the processing system to carry out the method comprising:
• estimating overall genomic health of a sexually reproducing organism or its virtual presentation, wherein said estimating comprises:
• in a set-up phase:
• storing information on a plurality of hereditary diseases potentially affecting a species of the sexually reproducing organism;
• for each hereditary disease in the plurality of hereditary diseases:
• determining a risk for that disease for a plurality of allele combinations in a specimen of the species;
• determining a degree of severity in the species;
• wherein the risk and severity are commensurate;
• in a specimen-specific phase:
• for each hereditary disease:
• determining a risk for the specimen to have the hereditary disease from the from the specimen's genotype;
• assigning a default risk which is between 0.2 and 0.8 of the range of values for the risk, if the hereditary disease exhibits Mendelian inheritance and if the specimen is a carrier of the disease;
• multiplying the risk for the hereditary disease by an expansive function of the severity;
• and
• calculating a statistically representative value of the multiplied risks.