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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics

Approximately 400 million people throughout the world suffer from a rare disease. Although advances in whole exome and whole genome sequencing have greatly facilitated rare disease diagnosis, overall diagnostic rates remain below 50%. Furthermore, in cases where accurate diagnosis is achieved the pr...

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Detalhes bibliográficos
Publicado no:Mol Med
Main Authors: Hartin, Samantha N., Means, John C., Alaimo, Joseph T., Younger, Scott T.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7691058/
https://ncbi.nlm.nih.gov/pubmed/33238891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s10020-020-00244-5
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