Bioinformatics challenges for personalized medicine

被引：150

作者：

Fernald, Guy Haskin ^{[1
]}

Capriotti, Emidio ^{[2
,3
]}

Daneshjou, Roxana

Karczewski, Konrad J. ^{[1
,4
]}

Altman, Russ B. ^{[2
,4
]}

机构：

[1] Stanford Univ, Sch Med, Biomed Informat Training Program, Stanford, CA 94305 USA

[2] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA

[3] Univ Balearic Isl, Dept Math & Comp Sci, Palma de Mallorca, Spain

[4] Stanford Univ, Dept Genet, Stanford, CA 94305 USA

来源：

BIOINFORMATICS | 2011年 / 27卷 / 13期

关键词：

GENOME-WIDE ASSOCIATION; SINGLE NUCLEOTIDE POLYMORPHISMS; NON-SYNONYMOUS SNPS; ALZHEIMERS-DISEASE; PROTEIN MUTATIONS; STABILITY CHANGES; DRUG DEVELOPMENT; SYSTEMS BIOLOGY; WEB SERVER; GENE;

D O I：

10.1093/bioinformatics/btr295

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Motivation: Widespread availability of low-cost, full genome sequencing will introduce new challenges for bioinformatics. Results: This review outlines recent developments in sequencing technologies and genome analysis methods for application in personalized medicine. New methods are needed in four areas to realize the potential of personalized medicine: (i) processing large-scale robust genomic data; (ii) interpreting the functional effect and the impact of genomic variation; (iii) integrating systems data to relate complex genetic interactions with phenotypes; and (iv) translating these discoveries into medical practice.

引用

页码：1741 / 1748

页数：8

共 128 条

[31] Predicting deleterious nsSNPs: an analysis of sequence and structural attributes [J].

Dobson, Richard J. ;

Munroe, Patricia B. ;

Caulfield, Mark J. ;

Saqi, Mansoor A. S. .

BMC BIOINFORMATICS, 2006, 7 (1)

[32] Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays [J].

Drmanac, Radoje ;

Sparks, Andrew B. ;

Callow, Matthew J. ;

Halpern, Aaron L. ;

Burns, Norman L. ;

Kermani, Bahram G. ;

Carnevali, Paolo ;

Nazarenko, Igor ;

Nilsen, Geoffrey B. ;

Yeung, George ;

Dahl, Fredrik ;

Fernandez, Andres ;

Staker, Bryan ;

Pant, Krishna P. ;

Baccash, Jonathan ;

Borcherding, Adam P. ;

Brownley, Anushka ;

Cedeno, Ryan ;

Chen, Linsu ;

Chernikoff, Dan ;

Cheung, Alex ;

Chirita, Razvan ;

Curson, Benjamin ;

Ebert, Jessica C. ;

Hacker, Coleen R. ;

Hartlage, Robert ;

Hauser, Brian ;

Huang, Steve ;

Jiang, Yuan ;

Karpinchyk, Vitali ;

Koenig, Mark ;

Kong, Calvin ;

Landers, Tom ;

Le, Catherine ;

Liu, Jia ;

McBride, Celeste E. ;

Morenzoni, Matt ;

Morey, Robert E. ;

Mutch, Karl ;

Perazich, Helena ;

Perry, Kimberly ;

Peters, Brock A. ;

Peterson, Joe ;

Pethiyagoda, Charit L. ;

Pothuraju, Kaliprasad ;

Richter, Claudia ;

Rosenbaum, Abraham M. ;

Roy, Shaunak ;

Shafto, Jay ;

Sharanhovich, Uladzislau .

SCIENCE, 2010, 327 (5961) :78-81

[33] In silico research in the era of cloud computing [J].

Dudley, Joel T. ;

Butte, Atul J. .

NATURE BIOTECHNOLOGY, 2010, 28 (11) :1181-1185

[34] Identification and analysis of error types in high-throughput genotyping [J].

Ewen, KR ;

Bahlo, M ;

Treloar, SA ;

Levinson, DF ;

Mowry, B ;

Barlow, JW ;

Foote, SJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (03) :727-736

[35] Carbamazepine, HLA-B*1502 and risk of Stevens-Johnson syndrome and toxic epidermal necrolysis: US FDA recommendations [J].

Ferrell, P. Brent, Jr. ;

McLeod, Howard L. .

PHARMACOGENOMICS, 2008, 9 (10) :1543-1546

[36] PMUT:: a web-based tool for the annotation of pathological mutations on proteins [J].

Ferrer-Costa, C ;

Gelpí, JL ;

Zamakola, L ;

Parraga, I ;

de la Cruz, X ;

Orozco, M .

BIOINFORMATICS, 2005, 21 (14) :3176-3178

[37] Pharmacogenetics-pivotal to the future of the biopharmaceutical industry [J].

Foot, Elizabeth ;

Kleyn, Dominique ;

Foster, Emma Palmer .

DRUG DISCOVERY TODAY, 2010, 15 (9-10) :325-327

[38] A second generation human haplotype map of over 3.1 million SNPs [J].

Frazer, Kelly A. ;

Ballinger, Dennis G. ;

Cox, David R. ;

Hinds, David A. ;

Stuve, Laura L. ;

Gibbs, Richard A. ;

Belmont, John W. ;

Boudreau, Andrew ;

Hardenbol, Paul ;

Leal, Suzanne M. ;

Pasternak, Shiran ;

Wheeler, David A. ;

Willis, Thomas D. ;

Yu, Fuli ;

Yang, Huanming ;

Zeng, Changqing ;

Gao, Yang ;

Hu, Haoran ;

Hu, Weitao ;

Li, Chaohua ;

Lin, Wei ;

Liu, Siqi ;

Pan, Hao ;

Tang, Xiaoli ;

Wang, Jian ;

Wang, Wei ;

Yu, Jun ;

Zhang, Bo ;

Zhang, Qingrun ;

Zhao, Hongbin ;

Zhao, Hui ;

Zhou, Jun ;

Gabriel, Stacey B. ;

Barry, Rachel ;

Blumenstiel, Brendan ;

Camargo, Amy ;

Defelice, Matthew ;

Faggart, Maura ;

Goyette, Mary ;

Gupta, Supriya ;

Moore, Jamie ;

Nguyen, Huy ;

Onofrio, Robert C. ;

Parkin, Melissa ;

Roy, Jessica ;

Stahl, Erich ;

Winchester, Ellen ;

Ziaugra, Liuda ;

Altshuler, David ;

Shen, Yan .

NATURE, 2007, 449 (7164) :851-U3

[39] Human genetic variation and its contribution to complex traits [J].

Frazer, Kelly A. ;

Murray, Sarah S. ;

Schork, Nicholas J. ;

Topol, Eric J. .

NATURE REVIEWS GENETICS, 2009, 10 (04) :241-251

[40] Pharmacogenetics of warfarin: regulatory, scientific, and clinical issues [J].

Gage, Brian F. ;

Lesko, Lawrence J. .

JOURNAL OF THROMBOSIS AND THROMBOLYSIS, 2008, 25 (01) :45-51

← 1 2 3 4 5 6 7 8 9 10 →