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

A method for the study of embryo mutations in in vitro reproduction processes with the particular feature that combines the detection techniques of Aneuploidy (PGD-A) and the study of monogenic embryonic diseases (PGD-M) and characterised in that comprises the processes of:

• 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;
• and wherein this process is configured to maximise the situation in which one of the parents has the value of an SNP in a heterozygous state, while the other parent has the value of an SNP in a homozygote state, and to obtain a panel of z optimised SNPs for both maximised values in the form of matrix M whose columns correspond to the subjects of the population and the rows to the values of each SNP for each subject;
• 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.