Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. The overall diagnostic rate was 31.8%. D...
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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
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TN_cdi_doaj_primary_oai_doaj_org_article_30730b989b0d4e08ad19e3e2c5925e92
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_30730b989b0d4e08ad19e3e2c5925e92
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ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-024-00455-3
