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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Position Statement
Acesso em linha: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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