METODO PARA EL ESTUDIO DE MUTACIONES EN EMBRIONES EN PROCESOS DE REPRODUCCION IN VITRO

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...

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Bibliographische Detailangaben
Hauptverfasser: CASTEJON FERNANDEZ, NATALIA, ALCARAZ MAS, LUIS A
Format: Patent
Sprache:spa
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Beschreibung
Zusammenfassung: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 input; a SNP selection process, wherein all the SNP combinations are evauated to obtain a minimum set t of tagSNPs from the matrix M obtained in the first SNP selection process; and a process involving in-silico validation of the tagSNP panel obtained in the second process.