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Showing 1–3 of 3 results
Advanced filters: Author: Magnus Ö. Ulfarsson Clear advanced filters

  • A barcode-based approach applied to UK Biobank and an Icelandic cohort identifies drivers of clonal hematopoiesis (CH) and finds associations between CH and multiple diseases. Genome-wide association analyses identify 25 loci associated with CH susceptibility.

    • Simon N. Stacey
    • Florian Zink
    • Kari Stefansson
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 2149-2159

  • A transformer-based method efficiently detects RNA splicing from 45,000-nucleotide sequences by applying hard attention to select splice site candidates, outperforming SpliceAI in identifying splice sites and disease-related variants.

    • Benedikt A. Jónsson
    • Gísli H. Halldórsson
    • Magnús Ö. Úlfarsson
    ResearchOpen Access
    Communications Biology
    Volume: 7, P: 1-9