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    • Assessing performance of pathogenicity predictors using clinically relevant variant datasets 

      Gunning, Adam; Fasham, James; Crosby, Andrew H.; Ellard, Sian; Baple, Emma L.; Wright, Caroline F. (HighWire, 2020-08-25)
      Background: Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has not been ...

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    AuthorBaple, Emma L. (1)
    Crosby, Andrew H. (1)
    Ellard, Sian (1)Fasham, James (1)Gunning, Adam (1)Wright, Caroline F. (1)Subjectgenetic testing (1)genetic variation (1)
    genetics (1)
    genomics (1)human genetics (1)... View MoreDate Issued2020 (1)Has File(s)Yes (1)

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