Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current s...
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases, however, has remained challenging. Significant progress has been made, including advances by the National Institutes of Health (NIH)-funde...
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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
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TN_cdi_doaj_primary_oai_doaj_org_article_3cf7c8a199e043afb6902650fd8e1882
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3cf7c8a199e043afb6902650fd8e1882
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-021-01839-9