Statistical processing of gene sequences to determine possible haplotypes and their probability, useful e.g. for identifying genetic origins of complex diseases

摘要

Processing (M1) gene sequences of diploid organisms, in which, for each genotype considered, from a given sample group, the number of possible haplotype pairs (x,y) and the probability of their appearance are predicted, is new. The process comprises determining: (a) those haplotypes, x, that are compatible with g; (b) pairs (x,y) of g-compatible haplotypes from which g can be assembled; and (c) the probability h(g,x) of the haplotype, through a statistical estimation method. Then at least one haplotype pair with a given minimum probability is outputted, stored and/or displayed. Independent claims are also included for the following: (1) computer program (I) for the new method; and (2) apparatus (II) for performing the method.