Method for the Study of Embryo Mutations in IN VITRO Reproduction Processes

摘要

The invention relates to a method for the study of embryo mutations in in vitro reproduction processes with the particular feature that it combines the detection techniques of Aneuploidy (PGD-A) and the study of monogenic diseases in embryos (PGD-M), and wherein the method comprises a SNP selection process wherein the values of some n candidate SNPs (t1 . . . tk) of each subject x, in a chromosomal region of interest and specifically extracted for a study population, are taken as an input; a SNP selection process wherein all the SNP combinations are evaluated to obtain a minimum set t of tagSNPs from the matrix M obtained in the first SNP selection process; and an in-silico validation process of the tagSNP panel obtained in the second process.