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a database and api for variation, dense genotyping and resequencing data数据库和api的变异,基因型和重测序数据密集
Rios et al. BMC Bioinformatics 2010, 11:238
/1471-2105/11/238
S O F T W A R E Open Access
Software
A database and API for variation, dense
genotyping and resequencing data
Daniel Rios, William M McLaren, Yuan Chen, Ewan Birney, Arne Stabenau, Paul Flicek and Fiona Cunningham*
Abstract
Background: 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.
Results: 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.
Conclusions: Ensembls powerful, flexible and open source infrastructure for the management of variation,
genotyping and resequencing data is freely available at .
Background integration with existing genome annotation. Storing
The advances in sequencing technologies over the last dense variation data for many individuals in any naive
decade have transformed biology into an i
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