Search Results - "Koylass, Baron"

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    The European Variation Archive: a FAIR resource of genomic variation for all species by Cezard, Timothe, Cunningham, Fiona, Hunt, Sarah E, Koylass, Baron, Kumar, Nitin, Saunders, Gary, Shen, April, Silva, Andres F, Tsukanov, Kirill, Venkataraman, Sundararaman, Flicek, Paul, Parkinson, Helen, Keane, Thomas M

    Published in Nucleic acids research (07-01-2022)
    “…Abstract The European Variation Archive (EVA; https://www.ebi.ac.uk/eva/) is a resource for sharing all types of genetic variation data (SNPs, indels, and…”
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    Journal Article
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    CMAT: ClinVar Mapping and Annotation Toolkit by Shen, April, Barbero, Marcos Casado, Koylass, Baron, Tsukanov, Kirill, Cezard, Tim, Keane, Thomas M

    Published in Bioinformatics advances (2024)
    “…Abstract Summary Semantic ontology mapping of clinical descriptors with disease outcome is essential. ClinVar is a key resource for human variation with known…”
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    Journal Article