DETERMINATION OF THE PHENOTYPE BASED ON INCOMPLETE GENETIC DATA

摘要

The invention relates to means of a user's phenotype inference in the absence of complete genetic information and providing recommendations based on the inferred phenotypes. The invention solves the problem of accurately inferring a user's phenotype on the basis of the user's incomplete genetic data expressed in a lack of information about the genotype for at least one position or identifier of a genetic variation. The invention relates to a method, a system and a computer-readable data medium that allows obtaining a user's genetic information with genetic variations in the form of position-genotype pairs, selecting genetic variations that correspond to data on known haplotypes of one or more genes, from the user's genetic information, obtaining all possible diplotypes from known haplotypes for the genes, evaluating each obtained diplotype for compliance with the obtained genetic information of the user, forming a set of selected diplotypes on the basis of the calculated total number of mismatches, mapping possible diplotypes for said genes to a phenotype, inferring the user's phenotype on the basis of the resulting mapping from diplotypes to phenotypes.