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Dimartino, Paola (2022) A machine learning based method to detect genomic imbalances exploiting X chromosome exome reads, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Data science and computation, 33 Ciclo. DOI 10.48676/unibo/amsdottorato/10374.

34

Iovino, Emanuela (2023) Integrating structural variant calling, annotation and prioritization into whole genome analysis workflows: a practical application in the molecular diagnosis of neurodevelopmental disorders, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Data science and computation, 34 Ciclo. DOI 10.48676/unibo/amsdottorato/10987.

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Luppi, Elena (2026) Precision medicine in Neurofibromatosis type 1: deciphering the functional effects of variants of uncertain significance in the NF1 gene in molecularly unsolved cases to improve differential diagnosis, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche generali e scienze dei servizi, 38 Ciclo.