Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes.
(Cell, Volume 148, Issue 6, 1293-1307, 16 March 2012)
SUMMARY
"Personalized medicine is expected to benefit from combining genomic information with regular moni- toring of physiological states by multiple high- throughput methods. Here, we present an integrative personal omics profile (iPOP), an analysis that combines genomic, transcriptomic, proteomic, metabolomic, and autoantibody profiles from a single individual over a 14 month period. Our iPOP analysis revealed various medical risks, including type II diabetes. It also uncovered extensive, dynamic changes in diverse molecular components and biological pathways across healthy and diseased conditions. Extremely high-coverage genomic and transcriptomic data, which provide the basis of our iPOP, discovered extensive heteroallelic changes during healthy and diseased states and an unexpected RNA editing mechanism. This study demonstrates that longitudinal iPOP can be used to interpret healthy and disease states by connecting genomic information with additional dynamic omics activity."
Rui Chen*,1 George I. Mias*,1 Jennifer Li-Pook-Than*,1 Lihua Jiang*,1
Hugo Y.K. Lam,1,11 Rong Chen,2 Elana Miriami,1 Konrad J. Karczewski,1 Manoj Hariharan,1 Frederick E. Dewey,3 Yong Cheng,1 Michael J. Clark,1 Hogune Im,1 Lukas Habegger,6,7 Suganthi Balasubramanian,6,7 Maeve O’Huallachain,1 Joel T. Dudley,2
Sara Hillenmeyer,1 Rajini Haraksingh,1 Donald Sharon,1 Ghia Euskirchen,1 Phil Lacroute,1 Keith Bettinger,1 Alan P. Boyle,1 Maya Kasowski,1 Fabian Grubert,1 Scott Seki,2 Marco Garcia,2 Michelle Whirl-Carrillo,1 Mercedes Gallardo,9,10
Maria A. Blasco,9 Peter L. Greenberg,4 Phyllis Snyder,1 Teri E. Klein,1 Russ B. Altman,1,5 Atul Butte,2 Euan A. Ashley,3 Mark Gerstein,6,7,8 Kari C. Nadeau,2 Hua Tang,1 and Michael Snyder,1
1Department of Genetics, Stanford University School of Medicine
2Division of Systems Medicine and Division of Immunology and Allergy, Department of Pediatrics
3Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine
4Division of Hematology, Department of Medicine
5Department of Bioengineering
Stanford University, Stanford, CA 94305, USA
6Program in Computational Biology and Bioinformatics
7Department of Molecular Biophysics and Biochemistry
8Department of Computer Science
Yale University, New Haven, CT 06520, USA
9Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO), Madrid E-28029, Spain
10Life Length, Madrid E-28003, Spain
11Present address: Personalis, Palo Alto, CA 94301, USA
*These authors contributed equally to this work
DOI 10.1016/j.cell.2012.02.009
