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

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 advance...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Baldridge, Dustin, Wangler, Michael F., Bowman, Angela N., Yamamoto, Shinya, Schedl, Tim, Pak, Stephen C., Postlethwait, John H., Shin, Jimann, Solnica-Krezel, Lilianna, Bellen, Hugo J., Westerfield, Monte
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
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Position Statement
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8103593/
https://ncbi.nlm.nih.gov/pubmed/33962631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01839-9
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