"Long-read sequencing sheds light into the dark side of the human genome"
Bernardo Rodriguez-Martin
Postdoctoral Fellow. European Molecular Biology Laboratory (EMBL) & Stanford University
Theatre room, CiMUS
About:
Roughly half of the human genome is composed by repetitive DNA, which is poorly studied owing to technical limitations. Here, we used long-read sequencing for human genome assembly and genetic variation discovery. This analysis revealed a whole panorama of polymorphisms involving repeats, including inversion toggling, a mutational mechanism associated with genetic disorders.
Bio:
Bernardo Rodriguez-Martin is a computational biologist focused on the study of repetitive DNA and its impact on disease. He harbours a Ph.D. in cancer genomics from the University of Santiago of Compostela and currently, he is a Bridging Excellence Fellow at EMBL and Stanford University School of Medicine. During his career has done major contributions to international consortiums, such as Pan-Cancer or the HGSVC.
Hosted by PI Jose Tubio, Genomes and disease Group
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