Search Results - "Bevan, Andrew P."

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    Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER by Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.

    Published in Human mutation (01-10-2015)
    “…ABSTRACT DECIPHER (https://decipher.sanger.ac.uk) is a web‐based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants…”
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    Journal Article
  2. 2

    DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research by Foreman, Julia, Brent, Simon, Perrett, Daniel, Bevan, Andrew P., Hunt, Sarah E., Cunningham, Fiona, Hurles, Matthew E., Firth, Helen V.

    Published in Human mutation (01-06-2022)
    “…DECIPHER (https://www.deciphergenomics.org) is a free web platform for sharing anonymized phenotype‐linked variant data from rare disease patients. Its dynamic…”
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    Journal Article