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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書目詳細資料
發表在: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
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2020
主題:
PNAS Plus
在線閱讀: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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