Opportunities and Challenges for Genome Sequencing in the Clinic

被引：8

作者：

Cavalleri, Gianpiero L. ^{[1
]}

Delanty, Norman ^{[1
,2
]}

机构：

[1] Royal Coll Surgeons Ireland, Dublin 2, Ireland

[2] Beaumont Hosp, Dept Neurol, Dublin 9, Ireland

来源：

CHALLENGES AND OPPORTUNITIES OF NEXT-GENERATION SEQUENCING FOR BIOMEDICAL RESEARCH | 2012年 / 89卷

关键词：

SUDDEN UNEXPECTED DEATH; GENETIC-LINKAGE MAP; DE-NOVO MUTATIONS; WIDE ASSOCIATION; HLA-B; EPILEPSY; VARIANTS; LOCI; MEDICINE; RISK;

D O I：

10.1016/B978-0-12-394287-6.00003-3

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Human genome sequencing technology is developing rapidly. These developments are providing exciting opportunities for genetic mapping of human traits, ranging from accelerated discovery of mutations underlying relatively simple Mendelian disorders to more genetically complex human diseases. This chapter outlines the development of whole-genome sequencing in a historical context of genetic mapping and explores the impact that sequencing is having on gene discovery study design. Using the example of epilepsy, the authors outline the opportunities and barriers for the translation of genetic predictors from discovery to the clinic. Finally, the authors discuss the practical challenges of actual implementation of whole-genome sequencing to the clinic.

引用

页码：65 / 83

页数：19

共 76 条

[1] HLA-B locus in Caucasian patients with carbamazepine hypersensitivity [J].

Alfirevic, Ana ;

Jorgensen, Andrea L. ;

Williamson, Paula R. ;

Chadwick, David W. ;

Park, B. Kevin ;

Pirmohamed, Munir .

PHARMACOGENOMICS, 2006, 7 (06) :813-818

[2] Hundreds of variants clustered in genomic loci and biological pathways affect human height [J].

Allen, Hana Lango ;

Estrada, Karol ;

Lettre, Guillaume ;

Berndt, Sonja I. ;

Weedon, Michael N. ;

Rivadeneira, Fernando ;

Willer, Cristen J. ;

Jackson, Anne U. ;

Vedantam, Sailaja ;

Raychaudhuri, Soumya ;

Ferreira, Teresa ;

Wood, Andrew R. ;

Weyant, Robert J. ;

Segre, Ayellet V. ;

Speliotes, Elizabeth K. ;

Wheeler, Eleanor ;

Soranzo, Nicole ;

Park, Ju-Hyun ;

Yang, Jian ;

Gudbjartsson, Daniel ;

Heard-Costa, Nancy L. ;

Randall, Joshua C. ;

Qi, Lu ;

Smith, Albert Vernon ;

Maegi, Reedik ;

Pastinen, Tomi ;

Liang, Liming ;

Heid, Iris M. ;

Luan, Jian'an ;

Thorleifsson, Gudmar ;

Winkler, Thomas W. ;

Goddard, Michael E. ;

Lo, Ken Sin ;

Palmer, Cameron ;

Workalemahu, Tsegaselassie ;

Aulchenko, Yurii S. ;

Johansson, Asa ;

Zillikens, M. Carola ;

Feitosa, Mary F. ;

Esko, Tonu ;

Johnson, Toby ;

Ketkar, Shamika ;

Kraft, Peter ;

Mangino, Massimo ;

Prokopenko, Inga ;

Absher, Devin ;

Albrecht, Eva ;

Ernst, Florian ;

Glazer, Nicole L. ;

Hayward, Caroline .

NATURE, 2010, 467 (7317) :832-838

[3] A haplotype map of the human genome [J].

Altshuler, D ;

Brooks, LD ;

Chakravarti, A ;

Collins, FS ;

Daly, MJ ;

Donnelly, P ;

Gibbs, RA ;

Belmont, JW ;

Boudreau, A ;

Leal, SM ;

Hardenbol, P ;

Pasternak, S ;

Wheeler, DA ;

Willis, TD ;

Yu, FL ;

Yang, HM ;

Zeng, CQ ;

Gao, Y ;

Hu, HR ;

Hu, WT ;

Li, CH ;

Lin, W ;

Liu, SQ ;

Pan, H ;

Tang, XL ;

Wang, J ;

Wang, W ;

Yu, J ;

Zhang, B ;

Zhang, QR ;

Zhao, HB ;

Zhao, H ;

Zhou, J ;

Gabriel, SB ;

Barry, R ;

Blumenstiel, B ;

Camargo, A ;

Defelice, M ;

Faggart, M ;

Goyette, M ;

Gupta, S ;

Moore, J ;

Nguyen, H ;

Onofrio, RC ;

Parkin, M ;

Roy, J ;

Stahl, E ;

Winchester, E ;

Ziaugra, L ;

Shen, Y .

NATURE, 2005, 437 (7063) :1299-1320

[4] Looking back at genomic medicine in 2011 [J].

Auffray, Charles ;

Caulfield, Timothy ;

Khoury, Muin J. ;

Lupski, James R. ;

Schwab, Matthias ;

Veenstra, Timothy .

GENOME MEDICINE, 2012, 4

[5]

Aynacioglu AS, 1999, BRIT J CLIN PHARMACO, V48, P409

[6] Linkage Analysis in the Next-Generation Sequencing Era [J].

Bailey-Wilson, Joan E. ;

Wilson, Alexander F. .

HUMAN HEREDITY, 2011, 72 (04) :228-236

[7] Towards a modern classification of the epilepsies? [J].

Berg, Anne T. ;

Cross, J. Helen .

LANCET NEUROLOGY, 2010, 9 (05) :459-461

[8] Epi4K: Gene discovery in 4,000 genomes [J].

Berkovic, Sam ;

Cossette, Patrick ;

Delanty, Norman ;

Dlugos, Dennis ;

Eichler, Evan ;

Epstein, Michael ;

Glauser, Tracy ;

Goldstein, David ;

Heinzen, Erin ;

Johnson, Michael R. ;

Kuzniecky, Ruben ;

Lowenstein, Daniel ;

Marson, Tony ;

Mefford, Heather ;

O'Brien, Terence ;

Ottman, Ruth ;

Poduri, Ann ;

Scheffer, Ingrid ;

Sherr, Elliott ;

Shianna, Kevin .

EPILEPSIA, 2012, 53 (08) :1457-1467

[9] Human epilepsies: interaction of genetic and acquired factors [J].

Berkovic, Samuel F. ;

Mulley, John C. ;

Scheffer, Ingrid E. ;

Petrou, Steven .

TRENDS IN NEUROSCIENCES, 2006, 29 (07) :391-397

[10] Epilepsies in twins: Genetics of the major epilepsy syndromes [J].

Berkovic, SF ;

Howell, RA ;

Hay, DA ;

Hopper, JL .

ANNALS OF NEUROLOGY, 1998, 43 (04) :435-445

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