Simulation of undiagnosed patients with novel genetic conditions
Simulation of undiagnosed patients with novel genetic conditions
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Publisher
London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Rare Mendelian disorders pose a major diagnostic challenge and collectively affect 300–400 million patients worldwide. Many automated tools aim to uncover causal genes in patients with suspected genetic disorders, but evaluation of these tools is limited due to the lack of comprehensive benchmark datasets that include previously unpublished conditi...
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Simulation of undiagnosed patients with novel genetic conditions
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TN_cdi_doaj_primary_oai_doaj_org_article_83597d6332fa45a3a95b8e4a66d94735
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_83597d6332fa45a3a95b8e4a66d94735
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-023-41980-6
