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一个用于变异、高密度基因分型和重测序数据的数据库和 API。

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

机构信息

European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.

出版信息

BMC Bioinformatics. 2010 May 11;11:238. doi: 10.1186/1471-2105-11-238.

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

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.

摘要

背景

测序和基因分型技术的进步使得多物种变异数据、密集型基因型数据和大规模重测序项目得以广泛应用。1000 基因组计划(The 1000 Genomes Project)和其他物种的类似计划正在挑战之前用于存储和处理此类数据的方法,这需要重新设计现有的全基因组生物信息学资源。

结果

Ensembl 创建了一个数据库和软件库,用于支持存储、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兴变异数据。这些工具可扩展到数千个个体基因组序列,并集成到 Ensembl 基因组注释和可视化基础设施中。该数据库和软件系统可轻松扩展,以整合 Ensembl 软件安装环境中的公共和非公共数据源,并且已经在 Ensembl 项目之外的许多数据库和应用环境中得到应用。

结论

Ensembl 用于管理变异、基因分型和重测序数据的强大、灵活和开源基础设施可在 http://www.ensembl.org 免费获得。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d48/2882931/f053225a0f14/1471-2105-11-238-1.jpg

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