Browsing by Author "Wagner, Alex H."

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  • A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
    Wagner, Alex H.; Tamborero Noguera, David; López Bigas, Núria; Variant Interpretation for Cancer Consortium (Nature Research, 2020)
    Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases ...
  • Phenopacket-tools: Building and validating GA4GH Phenopackets
    Danis, Daniel; Jacobsen, Julius O.B.; Wagner, Alex H.; Groza, Tudor; Beckwith, Martha A.; Rekerle, Lauren; Carmody, Leigh C.; Reese, Justin; Hegde, Harshad; Ladewig, Markus S.; Seitz, Berthold; Muñoz-Torres, Mónica; Harris, Nomi L.; Rambla de Argila, Jordi; Baudis, Michael; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N. (Public Library of Science (PLoS), 2023)
    The Global Alliance for Genomics and Health (GA4GH) is a standards-setting organization that is developing a suite of coordinated standards for genomics. The GA4GH Phenopacket Schema is a standard for sharing disease and ...

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