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PMID: 22424236 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Personal omics profiling reveals dynamic molecular and medical phenotypes.

Cell ·Vol. 148 ·No. 6 ·2012-03-16 ·Pages 1293-307

Chen R, Mias GI, Li-Pook-Than J, Jiang L, Lam HY, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, O'Huallachain M, Dudley JT, Hillenmeyer S, Haraksingh R, Sharon D, Euskirchen G, Lacroute P, Bettinger K, Boyle AP, Kasowski M, Grubert F, Seki S, Garcia M, Whirl-Carrillo M, Gallardo M, Blasco MA, Greenberg PL, Snyder P, Klein TE, Altman RB, Butte AJ, Ashley EA, Gerstein M, Nadeau KC, Tang H, Snyder M

Abstract

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.

MeSH Terms
Diabetes Mellitus, Type 2/genetics Female Gene Expression Profiling Genome, Human Genomics Humans Male Metabolomics Middle Aged Mutation Precision Medicine Proteomics Respiratory Syncytial Viruses/isolation & purification Rhinovirus/isolation & purification
Authors & Affiliations
41 authors, click to expand affiliations / ORCID
Chen Rui
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Mias George I
Li-Pook-Than Jennifer
Jiang Lihua
Lam Hugo Y K
Chen Rong
Miriami Elana
Karczewski Konrad J
Hariharan Manoj
Dewey Frederick E
Cheng Yong
Clark Michael J
Im Hogune
Habegger Lukas
Balasubramanian Suganthi
O'Huallachain Maeve
Dudley Joel T
Hillenmeyer Sara
Haraksingh Rajini
Sharon Donald
Euskirchen Ghia
Lacroute Phil
Bettinger Keith
Boyle Alan P
Kasowski Maya
Grubert Fabian
Seki Scott
Garcia Marco
Whirl-Carrillo Michelle
Gallardo Mercedes
Blasco Maria A
Greenberg Peter L
Snyder Phyllis
Klein Teri E
Altman Russ B
Butte Atul J
Ashley Euan A
Gerstein Mark
Nadeau Kari C
Tang Hua
Snyder Michael
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Article Info
Journal
Cell
Abbr.
Cell
ISSN
1097-4172
DOI
10.1016/j.cell.2012.02.009
Published
2012-03-16
Pages
1293-307
Language
English
Region
United States
NLM ID
0413066
PMCID
PMC3341616
Subset
IM
Grants
NIGMS NIH HHS · R24 GM061374 · United States
NHGRI NIH HHS · P50 HG002357-08 · United States
NHGRI NIH HHS · U54 HG004558 · United States
NHGRI NIH HHS · T32 HG000044-14 · United States
NHGRI NIH HHS · U54 HG004558-05 · United States
NHLBI NIH HHS · K08 HL083914 · United States
NLM NIH HHS · T15 LM007033 · United States
NIGMS NIH HHS · T32 GM007205 · United States
NHLBI NIH HHS · T32 HL094274 · United States
NHGRI NIH HHS · T32 HG000044 · United States
NHGRI NIH HHS · P50 HG002357-11 · United States
NHGRI NIH HHS · P50 HG002357-07 · United States
European Research Council · 232854 · International
NHGRI NIH HHS · P50 HG002357-10 · United States
NHGRI NIH HHS · U54 HG004558-04 · United States
NIH HHS · OD004613 · United States
NHGRI NIH HHS · T32 HG000044-15 · United States
NHGRI NIH HHS · P50 HG002357-09 · United States
NLM NIH HHS · T15-LM007033 · United States
NHGRI NIH HHS · P50 HG002357-06 · United States
NIGMS NIH HHS · R24-GM61374 · United States
NHGRI NIH HHS · P50 HG002357 · United States
NHGRI NIH HHS · U54 HG004558-05S1 · United States
Databases
GEO
GSE33029
Corrections
CommentIn
PMID: 22715285
External Links
PubMed source DOI: 10.1016/j.cell.2012.02.009 PMC Full Text View journal details
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