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Speaker: Dr. Natalia Padilla Sirera, postdoctoral researcher at Clinical and Translational group, in Vall d’Hebron Institute of Research (VHIR).
Abstract: The rapid advancement of Omics techniques has revolutionized the field of Precision Medicine, providing unprecedented insights into the molecular events underlying hereditary diseases. However, this progress has posed a significant challenge: the emergence of variants of unknown significance. While pathogenicity predictors have become an important tool to provide supporting evidence for variant classification, it is also true that they are far from perfect and present challenges in terms of interpretation. Within the Clinical and Translational Bioinformatics group, we have addressed this challenge by developing a suite of tools for the interpretation of pathogenicity prediction of missense variants in breast cancer genes. More precisely, we have developed a package for the graphical analysis of variants in BRCA1 and BRCA2, coupled with its implementation into a user-friendly website to facilitate broader access of these tools to the scientific community.
Host: Dr. Xavier de la Cruz, Head of group Clinical and Translational Bioinformatics (VHIR)
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