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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 s...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3cf7c8a199e043afb6902650fd8e1882

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

About this item

Full title

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_3cf7c8a199e043afb6902650fd8e1882

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3cf7c8a199e043afb6902650fd8e1882

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-021-01839-9

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