Cell
Volume 148, Issue 6, 16 March 2012, Pages 1293-1307
Journal home page for Cell

Resource
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

https://doi.org/10.1016/j.cell.2012.02.009Get rights and content
Under an Elsevier user license
open archive

Summary

Personalized medicine is expected to benefit from combining genomic information with regular monitoring 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 2 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, revealed 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 diseased states by connecting genomic information with additional dynamic omics activity.

Highlights

► Physiological states analyzed by integrative personal omics profiling ► Extensive molecular changes revealed during different health states ► Individual disease risk predicted from integrated omics data ► Extensive heteroallele and RNA editing during healthy and disease states

Cited by (0)

11

These authors contributed equally to this work

12

Present address: Personalis, Palo Alto, CA 94301, USA