title: Personal omics profiling reveals dynamic molecular and medical phenotypes.
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.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.forename: George I
authors.initials: GI
authors.lastname: Mias
authors.forename: Jennifer
authors.initials: J
authors.lastname: Li-Pook-Than
authors.forename: Lihua
authors.initials: L
authors.lastname: Jiang
authors.forename: Hugo Y K
authors.initials: HY
authors.lastname: Lam
authors.forename: Rong
authors.initials: R
authors.lastname: Chen
authors.forename: Elana
authors.initials: E
authors.lastname: Miriami
authors.forename: Konrad J
authors.initials: KJ
authors.lastname: Karczewski
authors.forename: Manoj
authors.initials: M
authors.lastname: Hariharan
authors.forename: Frederick E
authors.initials: FE
authors.lastname: Dewey
authors.forename: Yong
authors.initials: Y
authors.lastname: Cheng
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Clark
authors.forename: Hogune
authors.initials: H
authors.lastname: Im
authors.forename: Lukas
authors.initials: L
authors.lastname: Habegger
authors.forename: Suganthi
authors.initials: S
authors.lastname: Balasubramanian
authors.forename: Maeve
authors.initials: M
authors.lastname: O'Huallachain
authors.forename: Joel T
authors.initials: JT
authors.lastname: Dudley
authors.forename: Sara
authors.initials: S
authors.lastname: Hillenmeyer
authors.forename: Rajini
authors.initials: R
authors.lastname: Haraksingh
authors.forename: Donald
authors.initials: D
authors.lastname: Sharon
authors.forename: Ghia
authors.initials: G
authors.lastname: Euskirchen
authors.forename: Phil
authors.initials: P
authors.lastname: Lacroute
authors.forename: Keith
authors.initials: K
authors.lastname: Bettinger
authors.forename: Alan P
authors.initials: AP
authors.lastname: Boyle
authors.forename: Maya
authors.initials: M
authors.lastname: Kasowski
authors.forename: Fabian
authors.initials: F
authors.lastname: Grubert
authors.forename: Scott
authors.initials: S
authors.lastname: Seki
authors.forename: Marco
authors.initials: M
authors.lastname: Garcia
authors.forename: Michelle
authors.initials: M
authors.lastname: Whirl-Carrillo
authors.forename: Mercedes
authors.initials: M
authors.lastname: Gallardo
authors.forename: Maria A
authors.initials: MA
authors.lastname: Blasco
authors.forename: Peter L
authors.initials: PL
authors.lastname: Greenberg
authors.forename: Phyllis
authors.initials: P
authors.lastname: Snyder
authors.forename: Teri E
authors.initials: TE
authors.lastname: Klein
authors.forename: Russ B
authors.initials: RB
authors.lastname: Altman
authors.forename: Atul J
authors.initials: AJ
authors.lastname: Butte
authors.forename: Euan A
authors.initials: EA
authors.lastname: Ashley
authors.forename: Mark
authors.initials: M
authors.lastname: Gerstein
authors.forename: Kari C
authors.initials: KC
authors.lastname: Nadeau
authors.forename: Hua
authors.initials: H
authors.lastname: Tang
authors.forename: Michael
authors.initials: M
authors.lastname: Snyder
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D008297:Male; D055432:Metabolomics; D008875:Middle Aged; D009154:Mutation; D057285:Precision Medicine; D040901:Proteomics; D012136:Respiratory Syncytial Viruses / Q000302:isolation & purification; D012229:Rhinovirus / Q000302:isolation & purification