Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic...
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical Genome Initiative conducted a literature review to identify appropriate clinical indications for GS. Studies p...
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Full title
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
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TN_cdi_doaj_primary_oai_doaj_org_article_27365d57311546bc828aa98a13d450ea
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_27365d57311546bc828aa98a13d450ea
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ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-024-00396-x
