Title
A database and API for variation, dense genotyping and resequencing data.
Abstract
Advances in sequencing and genotyping technologies are leading to the widespread availability of multi-species variation data, dense genotype data and large-scale resequencing projects. The 1000 Genomes Project and similar efforts in other species are challenging the methods previously used for storage and manipulation of such data necessitating the redesign of existing genome-wide bioinformatics resources.Ensembl has created a database and software library to support data storage, analysis and access to the existing and emerging variation data from large mammalian and vertebrate genomes. These tools scale to thousands of individual genome sequences and are integrated into the Ensembl infrastructure for genome annotation and visualisation. The database and software system is easily expanded to integrate both public and non-public data sources in the context of an Ensembl software installation and is already being used outside of the Ensembl project in a number of database and application environments.Ensembl's powerful, flexible and open source infrastructure for the management of variation, genotyping and resequencing data is freely available at http://www.ensembl.org.
Year
DOI
Venue
2010
10.1186/1471-2105-11-238
BMC Bioinformatics
Keywords
Field
DocType
genomics,microarrays,genotype,phenotype,software systems,bioinformatics,genome sequence,genome annotation,algorithms,genome,data storage
Genome,Genotype,Genotyping,Biology,Genomics,1000 Genomes Project,Application programming interface,Computational biology,Bioinformatics,Genetics,DNA microarray
Journal
Volume
Issue
ISSN
11
1
1471-2105
Citations 
PageRank 
References 
17
2.53
9
Authors
7
Name
Order
Citations
PageRank
Richard Durbin127329.79
William M. McLaren235430.48
Yuan Chen3850172.94
Ewan Birney42989603.10
Arne Stabenau5436110.58
Paul Flicek61319154.75
Fiona Cunningham7810110.64