CRG Scientific Sessions
17/06/202112:00OnlinePRBB Computational Genomics SeminarsUrko Martínez MarigortaPrincipal Investigator Integrative Genomics Lab. CIC Biogune (Ikerbasque)Drop the gigantic GWAS? Prospects and challenges to gear genetic risk for precision medicineHost: Garrido Enamorado, RominaAbstract:https://us02web.zoom.us/j/81073249721
The strong investments of the last two decades have led to an astonishing pace of discovery in human complex trait genetics. After learning about thousands of genetic risk variants involved in disease etiology, was it worth it? What are the implications for my disease of choice? What should we all do next? With special...
18/06/202116:00OnlinePRBB-CRG SessionsErnest TurroMount Sinai. New York, US"Whole-genome Sequencing of Rare Disease Patients in a National Healthcare System"Host: Jorge FerrerAbstract:I will first describe two statistical association methods for identifying the genetic determinants of rare diseases from whole-genome sequencing (WGS) and clinical phenotyping data. I will then present the analysis of WGS data from 13,000 rare disease patients enrolled in the NIHR BioResource-Rare Diseases. I will touch on approaches we have applied successfully for identifying non-coding pathogenic variants in regulatory elements of the genome. Finally, I will present an...
01/07/202112:00OnlinePRBB Computational Genomics SeminarsFernando CruzGenome Assembly and Annotation Team (Alioto's team, CNAG-CRG)De novo Genome Assembly: Do all roads lead to Rome?Host: Garrido Enamorado, RominaAbstract:click the link below to join the webinar:
Recent advances in sequencing technologies and assembly allow us to obtain highly contiguous and nearly error-free reference genomes. However, this task is often limited by the sample quality and the data available. Our team has been working on this front with several organisms using mainly Oxford Nanopore Technologies (ONT) rather than...