A database and API for variation, dense genotyping and resequencing data.

A database and API for variation, dense genotyping and resequencing data.
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DOI:
10.1186/1471-2105-11-238
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发表时间:
2010-05-11
期刊:
影响因子:
3
通讯作者:
Cunningham F
Cunningham F
中科院分区:
生物学4区
文献类型:
--
作者:
Rios D;McLaren WM;Chen Y;Birney E;Stabenau A;Flicek P;Cunningham F

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测序和基因分型技术的进步导致了多物种变异数据、密集基因数据和大规模重新测序项目的广泛获得。1000基因组计划和其他物种的类似努力正在挑战以前用于存储和处理这类数据的方法,这就需要重新设计现有的全基因组生物信息学资源。EnSembl创建了一个数据库和软件库,以支持数据存储、分析和访问来自大型哺乳动物和脊椎动物基因组的现有和新出现的变异数据。这些工具可扩展到数千个单独的基因组序列,并集成到EnSembl基础设施中,用于基因组注释和可视化。该数据库和软件系统可以很容易地扩展,以便在EnSembl软件安装的情况下集成公共和非公共数据源,并且已经在EnSembl项目之外的一些数据库和应用程序环境中使用。EnSembl用于管理变异、基因分型和重新测序数据的强大、灵活和开源的基础设施可在http://www.ensembl.org.免费获得
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.
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