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Volume 51 Issue 11
Nov.  2024
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Article Contents

Toward a universal approach for predicting variant pathogenicity in diverse disease landscapes

doi: 10.1016/j.jgg.2024.07.015
  • Received Date: 2024-06-09
  • Accepted Date: 2024-07-14
  • Rev Recd Date: 2024-07-02
  • Available Online: 2025-06-06
  • Publish Date: 2024-07-22
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    Kobayashi, Y., Yang, S., Nykamp, K., Garcia, J., Lincoln, S.E., Topper, S.E., 2017. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Genome Med. 9, 13.
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    Stenson, P.D., Mort, M., Ball, E.V., Chapman, M., Evans, K., Azevedo, L., Hayden, M., Heywood, S., Millar, D.S., Phillips, A.D., et al., 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum. Genet. 139, 1197-1207.
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