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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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: 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
Sprog:Inglês
Udgivet: BioMed Central 2021
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Position Statement
Online adgang: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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