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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書目詳細資料
發表在: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
格式: Artigo
語言:Inglês
出版: BioMed Central 2021
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Position Statement
在線閱讀: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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