BIFI-TALK: Xavier de la Cruz Monserrat. Vall d’Hebron Institute of Research, Barcelona<\/p>\n
Title<\/strong>:\u00a0Cracking the Hereditary Disease Code: Revisiting Predictive Properties with a Probabilistic Touch<\/p>\n Abstract<\/strong><\/p>\n As genomic sequencing becomes widespread in clinical settings, in silico pathogenicity predictions are increasingly vital for precision medicine. However, despite advances in machine learning-based classifiers, existing approaches are reaching a performance plateau while still facing interpretation challenges. In response, a paradigm shift has emerged in recent years, moving from binary classification toward modeling the quantitative impact of genetic variants. Friday, 14 February 2025, 12:30 h <\/p>","excerpt":"","slug":"bifi-talk-xavier-de-la-cruz-monserrat-vall-dhebron-institute-of-research-barcelona","image":false,"all_day":false,"start_date":"2025-03-14 12:30:00","start_date_details":{"year":"2025","month":"03","day":"14","hour":"12","minutes":"30","seconds":"00"},"end_date":"2025-03-14 14:30:00","end_date_details":{"year":"2025","month":"03","day":"14","hour":"14","minutes":"30","seconds":"00"},"utc_start_date":"2025-03-14 11:30:00","utc_start_date_details":{"year":"2025","month":"03","day":"14","hour":"11","minutes":"30","seconds":"00"},"utc_end_date":"2025-03-14 13:30:00","utc_end_date_details":{"year":"2025","month":"03","day":"14","hour":"13","minutes":"30","seconds":"00"},"timezone":"Europe\/Madrid","timezone_abbr":"CET","cost":"","cost_details":{"currency_symbol":"","currency_code":"","currency_position":"suffix","values":[]},"website":"","show_map":true,"show_map_link":true,"hide_from_listings":false,"sticky":false,"featured":false,"categories":[{"name":"Eventos","slug":"eventos","term_group":0,"term_taxonomy_id":33,"taxonomy":"tribe_events_cat","description":"","parent":0,"count":89,"filter":"raw","id":33,"urls":{"self":"https:\/\/bifi.es\/es\/wp-json\/tribe\/events\/v1\/categories\/33","collection":"https:\/\/bifi.es\/es\/wp-json\/tribe\/events\/v1\/categories"}}],"tags":[],"venue":{"id":806,"author":"8","status":"publish","date":"2016-11-02 10:55:54","date_utc":"2016-11-02 10:55:54","modified":"2017-10-31 15:50:22","modified_utc":"2017-10-31 14:50:22","url":"https:\/\/bifi.es\/local\/edificio-institutos-id\/","venue":"Edificio Institutos I+D","slug":"edificio-institutos-id","address":"Mariano Esquillor, 50018 Zaragoza","city":"Zaragoza","country":"Espa\u00f1a","province":"Zaragoza","zip":"50018","phone":"+34 976762989","website":"https:\/\/bifi.es","stateprovince":"Zaragoza","json_ld":{"@type":"Place","name":"Edificio Institutos I+D","description":"","url":"","address":{"@type":"PostalAddress","streetAddress":"Mariano Esquillor, 50018 Zaragoza","addressLocality":"Zaragoza","addressRegion":"Zaragoza","postalCode":"50018","addressCountry":"Espa\u00f1a"},"telephone":"+34 976762989","sameAs":"https:\/\/bifi.es"},"show_map":true,"show_map_link":true,"global_id":"bifi.es\/es\/?id=806","global_id_lineage":["bifi.es\/es\/?id=806"]},"organizer":[],"custom_fields":[],"json_ld":{"@context":"http:\/\/schema.org","@type":"Event","name":"BIFI-TALK: Xavier de la Cruz Monserrat. Vall d’Hebron Institute of Research, Barcelona","description":"<p>BIFI-TALK: Xavier de la Cruz Monserrat. Vall d\\'Hebron Institute of Research, Barcelona Title:\u00a0Cracking the Hereditary Disease Code: Revisiting Predictive Properties with a Probabilistic Touch Abstract As genomic sequencing becomes widespread […]<\/p>\\n","url":"https:\/\/bifi.es\/es\/schedule\/bifi-talk-xavier-de-la-cruz-monserrat-vall-dhebron-institute-of-research-barcelona\/","eventAttendanceMode":"https:\/\/schema.org\/OfflineEventAttendanceMode","eventStatus":"https:\/\/schema.org\/EventScheduled","startDate":"2025-03-14T12:30:00+01:00","endDate":"2025-03-14T14:30:00+01:00","location":{"@type":"Place","name":"Edificio Institutos I+D","description":"","url":"","address":{"@type":"PostalAddress","streetAddress":"Mariano Esquillor, 50018 Zaragoza","addressLocality":"Zaragoza","addressRegion":"Zaragoza","postalCode":"50018","addressCountry":"Espa\u00f1a"},"telephone":"+34 976762989","sameAs":"https:\/\/bifi.es"},"performer":"Organization"}}
\nOur work in this area has shown good performance, as demonstrated by our contributions to the CAGI5 and CAGI6 challenges, yet there is still room for improvement. In this talk, I will focus on a key aspect of pathogenicity prediction: the extraction of new discriminant features from traditional predictive properties, using a simple probabilistic framework. In particular, I will share insights from our approach and present preliminary results that highlight its potential impact on predictive models.<\/p>\n
\nConference Room. Edificio I+D<\/p>\n