Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Genome sequencing has established clinical utility for rare disease diagnosis. While increasing numbers of individuals have undergone elective genome sequencing, a comprehensive study surveying genome-wide disease-associated genes in adults with deep phenotyping has not been reported. Here we report...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Hou, Ying-Chen Claire, Yu, Hung-Chun, Martin, Rick, Cirulli, Elizabeth T., Schenker-Ahmed, Natalie M., Hicks, Michael, Cohen, Isaac V., Jönsson, Thomas J., Heister, Robyn, Napier, Lori, Swisher, Christine Leon, Dominguez, Saints, Tang, Haibao, Li, Weizhong, Perkins, Bradley A., Barea, Jaime, Rybak, Christina, Smith, Emily, Duchicela, Keegan, Doney, Michael, Brar, Pamila, Hernandez, Nathaniel, Kirkness, Ewen F., Kahn, Andrew M., Venter, J. Craig, Karow, David S., Caskey, C. Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2020
Assuntos:
PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7022190/
https://ncbi.nlm.nih.gov/pubmed/31980526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1909378117
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