HGVbase:: a curated resource describing human DNA variation and phenotype relationships
HGVbase:: a curated resource describing human DNA variation and phenotype relationships
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DOI：
10.1093/nar/gkh111
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发表时间：
2004-01-01
影响因子：
14.9
通讯作者：
Brookes, AJ
中科院分区：
文献类型：
--
作者：
Fredman, D;Munns, G;Brookes, AJ
人类基因组变异数据库(HGVbase；http://hgvbase.cgb.ki.se))提供了5年多来人类DNA变异的精选总结，从而促进了对DNA序列变异和人类表型的研究。该数据库经历了许多更改和改进，以适应不断增加的数据量和新类型的数据。HGVbase的重点最近已经转移到关于单倍型和表型的信息，表型和DNA变异之间的关系，以及为基因组-表型数据提供全球资源的合作努力。开放分享和精确的表型定义对于促进目前对常见疾病的理解是必要的，这些疾病的典型特征是复杂的病因、小的遗传效应大小和模糊了积极研究结果的多个混杂因素。作为这一新项目推力的一部分，将越来越多地收集协会数据。本报告描述了HGVbase的不断发展的功能，并详细介绍了我们为实现对日益庞大和复杂的数据集的高效存储和数据挖掘而做出的技术选择。
The Human Genome Variation Database (HGVbase; http://hgvbase.cgb.ki.se) has provided a curated summary of human DNA variation for more than 5 years, thus facilitating research into DNA sequence variation and human phenotypes. The database has undergone many changes and improvements to accommodate increasing volumes and new types of data. The focus of HGVbase has recently shifted towards information on haplotypes and phenotypes, relationships between phenotypes and DNA variation, and collaborative efforts to provide a global resource for genome-phenome data. Open sharing and precise phenotype definitions are necessary to advance the current understanding of common diseases that are typified by complex aetiologies, small genetic effect sizes and multiple confounding factors that obscure positive study results. Association data will increasingly be collected as part of this new project thrust. This report describes the evolving features of HGVbase, and covers in detail the technological choices we have made to enable efficient storage and data mining of increasingly large and complex data sets.