Integrative omics for health and disease

被引：671

作者：

Karczewski, Konrad J. ^{[1
,2
]}

Snyder, Michael P. ^{[3
]}

机构：

[1] Massachusetts Gen Hosp, Boston, MA 02114 USA

[2] Broad Inst Harvard & MIT, Cambridge, MA 02142 USA

[3] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

来源：

NATURE REVIEWS GENETICS | 2018年 / 19卷 / 05期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; GUT MICROBIOME; PARTITIONING HERITABILITY; FUNCTIONAL ANNOTATION; SOMATIC MUTATIONS; CLINICAL EXOME; GENETIC RISK; VARIANTS; TRANSCRIPTOME; SPECTRUM;

D O I：

10.1038/nrg.2018.4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Advances in omics technologies - such as genomics, transcriptomics, proteomics and metabolomics - have begun to enable personalized medicine at an extraordinarily detailed molecular level. Individually, these technologies have contributed medical advances that have begun to enter clinical practice. However, each technology individually cannot capture the entire biological complexity of most human diseases. Integration of multiple technologies has emerged as an approach to provide a more comprehensive view of biology and disease. In this Review, we discuss the potential for combining diverse types of data and the utility of this approach in human health and disease. We provide examples of data integration to understand, diagnose and inform treatment of diseases, including rare and common diseases as well as cancer and transplant biology. Finally, we discuss technical and other challenges to clinical implementation of integrative omics.

引用

页码：299 / 310

页数：12

共 131 条

[1] Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus [J].

Adrianto, Indra ;

Wen, Feng ;

Templeton, Amanda ;

Wiley, Graham ;

King, Jarrod B. ;

Lessard, Christopher J. ;

Bates, Jared S. ;

Hu, Yanqing ;

Kelly, Jennifer A. ;

Kaufman, Kenneth M. ;

Guthridge, Joel M. ;

Alarcon-Riquelme, Marta E. ;

Anaya, Juan-Manuel ;

Bae, Sang-Cheol ;

Bang, So-Young ;

Boackle, Susan A. ;

Brown, Elizabeth E. ;

Petri, Michelle A. ;

Gallant, Caroline ;

Ramsey-Goldman, Rosalind ;

Reveille, John D. ;

Vila, Luis M. ;

Criswell, Lindsey A. ;

Edberg, Jeffrey C. ;

Freedman, Barry I. ;

Gregersen, Peter K. ;

Gilkeson, Gary S. ;

Jacob, Chaim O. ;

James, Judith A. ;

Kamen, Diane L. ;

Kimberly, Robert P. ;

Martin, Javier ;

Merrill, Joan T. ;

Niewold, Timothy B. ;

Park, So-Yeon ;

Pons-Estel, Bernardo A. ;

Scofield, R. Hal ;

Stevens, Anne M. ;

Tsao, Betty P. ;

Vyse, Timothy J. ;

Langefeld, Carl D. ;

Harley, John B. ;

Moser, Kathy L. ;

Webb, Carol F. ;

Humphrey, Mary Beth ;

Montgomery, Courtney Gray ;

Gaffney, Patrick M. .

NATURE GENETICS, 2011, 43 (03) :253-U102

[2] The role of regulatory variation in complex traits and disease [J].

Albert, Frank W. ;

Kruglyak, Leonid .

NATURE REVIEWS GENETICS, 2015, 16 (04) :197-212

[3] An atlas of active enhancers across human cell types and tissues [J].

Andersson, Robin ;

Gebhard, Claudia ;

Miguel-Escalada, Irene ;

Hoof, Ilka ;

Bornholdt, Jette ;

Boyd, Mette ;

Chen, Yun ;

Zhao, Xiaobei ;

Schmidl, Christian ;

Suzuki, Takahiro ;

Ntini, Evgenia ;

Arner, Erik ;

Valen, Eivind ;

Li, Kang ;

Schwarzfischer, Lucia ;

Glatz, Dagmar ;

Raithel, Johanna ;

Lilje, Berit ;

Rapin, Nicolas ;

Bagger, Frederik Otzen ;

Jorgensen, Mette ;

Andersen, Peter Refsing ;

Bertin, Nicolas ;

Rackham, Owen ;

Burroughs, A. Maxwell ;

Baillie, J. Kenneth ;

Ishizu, Yuri ;

Shimizu, Yuri ;

Furuhata, Erina ;

Maeda, Shiori ;

Negishi, Yutaka ;

Mungall, Christopher J. ;

Meehan, Terrence F. ;

Lassmann, Timo ;

Itoh, Masayoshi ;

Kawaji, Hideya ;

Kondo, Naoto ;

Kawai, Jun ;

Lennartsson, Andreas ;

Daub, Carsten O. ;

Heutink, Peter ;

Hume, David A. ;

Jensen, Torben Heick ;

Suzuki, Harukazu ;

Hayashizaki, Yoshihide ;

Mueller, Ferenc ;

Forrest, Alistair R. R. ;

Carninci, Piero ;

Rehli, Michael ;

Sandelin, Albin .

NATURE, 2014, 507 (7493) :455-+

[4]

[Anonymous], MULTIOMICS FACTOR AN

[5]

[Anonymous], NAT BIOTECHNOL

[6]

[Anonymous], NAT REV GENET

[7]

Araya C. L., 2015, NAT PUBL GR, V48, P117, DOI DOI 10.1038/NG

[8] The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans [J].

Ardlie, Kristin G. ;

DeLuca, David S. ;

Segre, Ayellet V. ;

Sullivan, Timothy J. ;

Young, Taylor R. ;

Gelfand, Ellen T. ;

Trowbridge, Casandra A. ;

Maller, Julian B. ;

Tukiainen, Taru ;

Lek, Monkol ;

Ward, Lucas D. ;

Kheradpour, Pouya ;

Iriarte, Benjamin ;

Meng, Yan ;

Palmer, Cameron D. ;

Esko, Tonu ;

Winckler, Wendy ;

Hirschhorn, Joel N. ;

Kellis, Manolis ;

MacArthur, Daniel G. ;

Getz, Gad ;

Shabalin, Andrey A. ;

Li, Gen ;

Zhou, Yi-Hui ;

Nobel, Andrew B. ;

Rusyn, Ivan ;

Wright, Fred A. ;

Lappalainen, Tuuli ;

Ferreira, Pedro G. ;

Ongen, Halit ;

Rivas, Manuel A. ;

Battle, Alexis ;

Mostafavi, Sara ;

Monlong, Jean ;

Sammeth, Michael ;

Mele, Marta ;

Reverter, Ferran ;

Goldmann, Jakob M. ;

Koller, Daphne ;

Guigo, Roderic ;

McCarthy, Mark I. ;

Dermitzakis, Emmanouil T. ;

Gamazon, Eric R. ;

Im, Hae Kyung ;

Konkashbaev, Anuar ;

Nicolae, Dan L. ;

Cox, Nancy J. ;

Flutre, Timothee ;

Wen, Xiaoquan ;

Stephens, Matthew .

SCIENCE, 2015, 348 (6235) :648-660

[9] Clinical assessment incorporating a personal genome [J].

Ashley, Euan A. ;

Butte, Atul J. ;

Wheeler, Matthew T. ;

Chen, Rong ;

Klein, Teri E. ;

Dewey, Frederick E. ;

Dudley, Joel T. ;

Ormond, Kelly E. ;

Pavlovic, Aleksandra ;

Morgan, Alexander A. ;

Pushkarev, Dmitry ;

Neff, Norma F. ;

Hudgins, Louanne ;

Gong, Li ;

Hodges, Laura M. ;

Berlin, Dorit S. ;

Thorn, Caroline F. ;

Sangkuhl, Katrin ;

Hebert, Joan M. ;

Woon, Mark ;

Sagreiya, Hersh ;

Whaley, Ryan ;

Knowles, Joshua W. ;

Chou, Michael F. ;

Thakuria, Joseph V. ;

Rosenbaum, Abraham M. ;

Zaranek, Alexander Wait ;

Church, George M. ;

Greely, Henry T. ;

Quake, Stephen R. ;

Altman, Russ B. .

LANCET, 2010, 375 (9725) :1525-1535

[10] Integrated genomic analyses of ovarian carcinoma [J].

Bell, D. ;

Berchuck, A. ;

Birrer, M. ;

Chien, J. ;

Cramer, D. W. ;

Dao, F. ;

Dhir, R. ;

DiSaia, P. ;

Gabra, H. ;

Glenn, P. ;

Godwin, A. K. ;

Gross, J. ;

Hartmann, L. ;

Huang, M. ;

Huntsman, D. G. ;

Iacocca, M. ;

Imielinski, M. ;

Kalloger, S. ;

Karlan, B. Y. ;

Levine, D. A. ;

Mills, G. B. ;

Morrison, C. ;

Mutch, D. ;

Olvera, N. ;

Orsulic, S. ;

Park, K. ;

Petrelli, N. ;

Rabeno, B. ;

Rader, J. S. ;

Sikic, B. I. ;

Smith-McCune, K. ;

Sood, A. K. ;

Bowtell, D. ;

Penny, R. ;

Testa, J. R. ;

Chang, K. ;

Dinh, H. H. ;

Drummond, J. A. ;

Fowler, G. ;

Gunaratne, P. ;

Hawes, A. C. ;

Kovar, C. L. ;

Lewis, L. R. ;

Morgan, M. B. ;

Newsham, I. F. ;

Santibanez, J. ;

Reid, J. G. ;

Trevino, L. R. ;

Wu, Y. -Q. ;

Wang, M. .

NATURE, 2011, 474 (7353) :609-615

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