On the Future of Genomic Data

被引:155
作者
Kahn, Scott D. [1 ]
机构
[1] Illumina, San Diego, CA 92121 USA
关键词
GENETIC DIAGNOSIS;
D O I
10.1126/science.1197891
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Many of the challenges in genomics derive from the informatics needed to store and analyze the raw sequencing data that is available from highly multiplexed sequencing technologies. Because single week-long sequencing runs today can produce as much data as did entire genome centers a few years ago, the need to process terabytes of information has become de rigueur for many labs engaged in genomic research. The availability of deep (and large) genomic data sets raises concerns over information access, data security, and subject/patient privacy that must be addressed for the field to continue its rapid advances.
引用
收藏
页码:728 / 729
页数:2
相关论文
共 12 条
[1]  
Aldhous P., 2008, PLOS GENET
[2]   Genetic diagnosis by whole exome capture and massively parallel DNA sequencing [J].
Choi, Murim ;
Scholl, Ute I. ;
Ji, Weizhen ;
Liu, Tiewen ;
Tikhonova, Irina R. ;
Zumbo, Paul ;
Nayir, Ahmet ;
Bakkaloglu, Aysin ;
Ozen, Seza ;
Sanjad, Sami ;
Nelson-Williams, Carol ;
Farhi, Anita ;
Mane, Shrikant ;
Lifton, Richard P. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (45) :19096-19101
[3]  
Clarke J, 2009, NAT NANOTECHNOL, V4, P265, DOI [10.1038/NNANO.2009.12, 10.1038/nnano.2009.12]
[4]   Efficient storage of high throughput DNA sequencing data using reference-based compression [J].
Fritz, Markus Hsi-Yang ;
Leinonen, Rasko ;
Cochrane, Guy ;
Birney, Ewan .
GENOME RESEARCH, 2011, 21 (05) :734-740
[5]   Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays [J].
Homer, Nils ;
Szelinger, Szabolcs ;
Redman, Margot ;
Duggan, David ;
Tembe, Waibhav ;
Muehling, Jill ;
Pearson, John V. ;
Stephan, Dietrich A. ;
Nelson, Stanley F. ;
Craig, David W. .
PLOS GENETICS, 2008, 4 (08)
[6]  
Karow J., 2009, GENOMEWEB 0728
[7]   Genome sequencing in microfabricated high-density picolitre reactors [J].
Margulies, M ;
Egholm, M ;
Altman, WE ;
Attiya, S ;
Bader, JS ;
Bemben, LA ;
Berka, J ;
Braverman, MS ;
Chen, YJ ;
Chen, ZT ;
Dewell, SB ;
Du, L ;
Fierro, JM ;
Gomes, XV ;
Godwin, BC ;
He, W ;
Helgesen, S ;
Ho, CH ;
Irzyk, GP ;
Jando, SC ;
Alenquer, MLI ;
Jarvie, TP ;
Jirage, KB ;
Kim, JB ;
Knight, JR ;
Lanza, JR ;
Leamon, JH ;
Lefkowitz, SM ;
Lei, M ;
Li, J ;
Lohman, KL ;
Lu, H ;
Makhijani, VB ;
McDade, KE ;
McKenna, MP ;
Myers, EW ;
Nickerson, E ;
Nobile, JR ;
Plant, R ;
Puc, BP ;
Ronan, MT ;
Roth, GT ;
Sarkis, GJ ;
Simons, JF ;
Simpson, JW ;
Srinivasan, M ;
Tartaro, KR ;
Tomasz, A ;
Vogt, KA ;
Volkmer, GA .
NATURE, 2005, 437 (7057) :376-380
[8]  
Mayer A. N., 2010, GENET MED
[9]   Genetic Diagnosis of Familial Breast Cancer Using Clonal Sequencing [J].
Morgan, Joanne E. ;
Carr, Ian M. ;
Sheridan, Eamonn ;
Chu, Carol E. ;
Hayward, Bruce ;
Camm, Nick ;
Lindsay, Helen A. ;
Mattocks, Chris J. ;
Markham, Alexander F. ;
Bonthron, David T. ;
Taylor, Graham R. .
HUMAN MUTATION, 2010, 31 (04) :484-491
[10]   Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine [J].
Tucker, Tracy ;
Marra, Marco ;
Friedman, Jan M. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (02) :142-154