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. La-technique-d, Analyse Chromosomique sur Puce à ADN (ACPA), utilisée en routine dans le diagnostic des anomalies du développement, se heurte à des difficultés d'interprétation, de nombreuses variations du nombre de copies (CNVs) ainsi détectées restant de signification inconnue. Cependant, l'effet de ces CNVs sur les TADs n'est que récemment pris en compte dans cette interprétation

. Dans-le-cadre-de-cette-thèse, 735 CNVs détectés par ACPA et initialement considérés comme de signification inconnue, ont été ré-analysés afin de déterminer si ceux-ci peuvent altérer l'organisation des TADs

. De-plus, ACPA, ainsi que celles des annotations disponibles dans les bases de données publiques, sont autant d'obstacles à l'interprétation de l