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Review Article| Volume 43, ISSUE 1, P127-143, March 2023

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Artificial Intelligence in the Genetic Diagnosis of Rare Disease

  • Author Footnotes
    1 All authors contributed equally to this work.
    Kiely N. James
    Footnotes
    1 All authors contributed equally to this work.
    Affiliations
    Genomics, Rady Children’s Institute for Genomic Medicine, 7910 Frost Street, MC5129, San Diego, CA 92123, USA
    Search for articles by this author
  • Author Footnotes
    1 All authors contributed equally to this work.
    Sujal Phadke
    Footnotes
    1 All authors contributed equally to this work.
    Affiliations
    Genomics, Rady Children’s Institute for Genomic Medicine, 7910 Frost Street, MC5129, San Diego, CA 92123, USA
    Search for articles by this author
  • Author Footnotes
    1 All authors contributed equally to this work.
    Terence C. Wong
    Footnotes
    1 All authors contributed equally to this work.
    Affiliations
    Genomics, Rady Children’s Institute for Genomic Medicine, 7910 Frost Street, MC5129, San Diego, CA 92123, USA
    Search for articles by this author
  • Author Footnotes
    1 All authors contributed equally to this work.
    Shimul Chowdhury
    Correspondence
    Corresponding author.
    Footnotes
    1 All authors contributed equally to this work.
    Affiliations
    Rady Children’s Institute for Genomic Medicine, 7910 Frost Street, MC5129, San Diego, CA 92123, USA
    Search for articles by this author
  • Author Footnotes
    1 All authors contributed equally to this work.
      The use of artificial intelligence can streamline the lengthy process currently required to clinically interpret a genome.

      Keywords

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