PRBB Computational Genomics Seminars Bernardo Rodríguez-Martín

05/02/202612:00R_473.10_AULAPRBB Computational Genomics SeminarsBernardo Rodríguez-MartínBernardo Rodríguez-Martín Group. Repetitive DNA Biology (REPBIO) lab. CRG."Computational frameworks for analysing structural variation and transposable elements in long-read genomes"Abstract:Advances in long-read sequencing and haplotype-resolved genome assemblies are transforming our ability to study structural variation and transposable elements, yet interpreting, comparing, and benchmarking this variation remains computationally challenging. In this seminar, I will present a suite of computational tools developed in our lab to address these challenges across annotation, coordinate transfer, and simulation. I will introduce SVAN, a mechanism-aware framework for annotating structural variants and mobile elements from long-read data; TranSVerse and Haplotyper, which enable scalable transfer and genotyping of transposable elements across haplotype-resolved assemblies; and SVModeller, a simulator that generates realistic haplotypes and long-read datasets by learning the size, sequence features, and genomic distributions of diverse structural variant classes from empirical data. Together, these tools provide an integrated framework for studying repetitive and structural variation in population and disease genomics.