Abstract：
:A key aspect of genomic medicine is to make individualized clinical decisions from personal genomes. We developed a machine-learning framework to integrate personal genomes and electronic health record (EHR) data and used this framework to study abdominal aortic aneurysm (AAA), a prevalent irreversible cardiovascular disease with unclear etiology. Performing whole-genome sequencing on AAA patients and controls, we demonstrated its predictive precision solely from personal genomes. By modeling personal genomes with EHRs, this framework quantitatively assessed the effectiveness of adjusting personal lifestyles given personal genome baselines, demonstrating its utility as a personal health management tool. We showed that this new framework agnostically identified genetic components involved in AAA, which were subsequently validated in human aortic tissues and in murine models. Our study presents a new framework for disease genome analysis, which can be used for both health management and understanding the biological architecture of complex diseases. VIDEO ABSTRACT.
journal_name
Celljournal_title
Cellauthors
Li J,Pan C,Zhang S,Spin JM,Deng A,Leung LLK,Dalman RL,Tsao PS,Snyder Mdoi
10.1016/j.cell.2018.07.021subject
Has Abstractpub_date
2018-09-06 00:00:00pages
1361-1372.e10issue
6eissn
0092-8674issn
1097-4172pii
S0092-8674(18)30916-4journal_volume
174pub_type
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