Genotype-phenotype databases: challenges and solutions for the post-genomic era

被引：69

作者：

Thorisson, Gudmundur A. ^{[1
]}

Muilu, Juha ^{[2
]}

Brookes, Anthony J. ^{[1
]}

机构：

[1] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England

[2] Univ Helsinki, Inst Mol Med Finland, FIN-00290 Helsinki, Finland

来源：

NATURE REVIEWS GENETICS | 2009年 / 10卷 / 01期

关键词：

GENETIC-ASSOCIATION; SYSTEMATIC METAANALYSES; DISEASE; BIOLOGY; NATION; DESIGN;

D O I：

10.1038/nrg2483

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The flow of research data concerning the genetic basis of health and disease is rapidly increasing in speed and complexity. In response, many projects are seeking to ensure that there are appropriate informatics tools, systems and databases available to manage and exploit this flood of information. Previous solutions, such as central databases, journal-based publication and manually intensive data curation, are now being enhanced with new systems for federated databases, database publication, and more automated management of data flows and quality control. Along with emerging technologies that enhance connectivity and data retrieval, these advances should help to create a powerful knowledge environment for genotype-phenotype information.

引用

页码：9 / 18

页数：10

共 52 条

[1] Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database [J].

Allen, Nicole C. ;

Bagade, Sachin ;

McQueen, Matthew B. ;

Ioannidis, John P. A. ;

Kavvoura, Fotini K. ;

Khoury, Muin J. ;

Tanzi, Rudolph E. ;

Bertram, Lars .

NATURE GENETICS, 2008, 40 (07) :827-834

[2] PharmGKB: a logical home for knowledge relating genotype to drug response phenotype [J].

Altman, Russ B. .

NATURE GENETICS, 2007, 39 (04) :426-426

[3] Gene Ontology: tool for the unification of biology [J].

Ashburner, M ;

Ball, CA ;

Blake, JA ;

Botstein, D ;

Butler, H ;

Cherry, JM ;

Davis, AP ;

Dolinski, K ;

Dwight, SS ;

Eppig, JT ;

Harris, MA ;

Hill, DP ;

Issel-Tarver, L ;

Kasarskis, A ;

Lewis, S ;

Matese, JC ;

Richardson, JE ;

Ringwald, M ;

Rubin, GM ;

Sherlock, G .

NATURE GENETICS, 2000, 25 (01) :25-29

[4] Microdeletions and microinsertions causing human genetic disease: Common mechanisms of mutagenesis and the role of local DNA sequence complexity [J].

Ball, EV ;

Stenson, PD ;

Abeysinghe, SS ;

Krawczak, M ;

Cooper, DN ;

Chuzhanova, NA .

HUMAN MUTATION, 2005, 26 (03) :205-213

[5]

Becker KG, 2004, NAT GENET, V36, P431, DOI 10.1038/ng0504-431

[6]

Benson DA, 2017, NUCLEIC ACIDS RES, V45, pD37, DOI [10.1093/nar/gkl986, 10.1093/nar/gkw1070, 10.1093/nar/gkg057, 10.1093/nar/gks1195, 10.1093/nar/gkp1024, 10.1093/nar/gkq1079, 10.1093/nar/gkr1202, 10.1093/nar/gkx1094, 10.1093/nar/gkn723]

[7] The Semantic Web - A new form of Web content that is meaningful to computers will unleash a revolution of new possibilities [J].

Berners-Lee, T ;

Hendler, J ;

Lassila, O .

SCIENTIFIC AMERICAN, 2001, 284 (05) :34-+

[8] Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database [J].

Bertram, Lars ;

McQueen, Matthew B. ;

Mullin, Kristina ;

Blacker, Deborah ;

Tanzi, Rudolph E. .

NATURE GENETICS, 2007, 39 (01) :17-23

[9] The Mouse Genome Database (MGD): mouse biology and model systems [J].

Bult, Carol J. ;

Eppig, Janan T. ;

Kadin, James A. ;

Richardson, Joel E. ;

Blake, Judith A. .

NUCLEIC ACIDS RESEARCH, 2008, 36 :D724-D728

[10] Trends in ethical and legal frameworks for the use of human biobanks [J].

Cambon-Thomsen, A. ;

Rial-Sebbag, E. ;

Knoppers, B. M. .

EUROPEAN RESPIRATORY JOURNAL, 2007, 30 (02) :373-382

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