Ensembl variation resources
Ensembl variation resources
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DOI：
10.1093/database/bay119
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发表时间：
2018-11-06
影响因子：
5.8
通讯作者：
Cunningham, Fiona
中科院分区：
文献类型：
--
作者：
Hunt, Sarah E.;McLaren, William;Cunningham, Fiona
对人类和许多其他物种进行测序的主要目标是了解基因组变异、表型和疾病之间的联系。有许多有价值的和完善的变异资源，但整理和理解来自不同来源的非同质的、往往是大规模的数据集仍然是一个挑战。如果没有这些数据的系统目录和适当的查询和注释工具，了解个人的基因组序列并评估他们的疾病风险是不可能的。在EnSembl中，我们基本上解决了这个问题：我们开发了促进数据集成和广泛访问的方法；以一致的方式聚合信息，并使其以各种标准格式可用，包括可视化和程序化；建立分析管道，将变体与全面的基因组注释集进行比较；以及使所有工具和数据公开可用。
The major goal of sequencing humans and many other species is to understand the link between genomic variation, phenotype and disease. There are numerous valuable and well-established variation resources, but collating and making sense of non-homogeneous, often large-scale data sets from disparate sources remains a challenge. Without a systematic catalogue of these data and appropriate query and annotation tools, understanding the genome sequence of an individual and assessing their disease risk is impossible. In Ensembl, we substantially solve this problem: we develop methods to facilitate data integration and broad access; aggregate information in a consistent manner and make it available a variety of standard formats, both visually and programmatically; build analysis pipelines to compare variants to comprehensive genomic annotation sets; and make all tools and data publicly available.