Riva Alberto, Kohane Isaac S
Children's Hospital Informatics Program, Children's Hospital Boston, 320 Longwood, Avenue, Boston, MA 02115, USA.
BMC Bioinformatics. 2004 Mar 26;5:33. doi: 10.1186/1471-2105-5-33.
Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for genetic and biomedical research. Although current genomic databases contain information on several million SNPs and are growing at a very fast rate, the true value of a SNP in this context is a function of the quality of the annotations that characterize it. Retrieving and analyzing such data for a large number of SNPs often represents a major bottleneck in the design of large-scale association studies.
SNPper is a web-based application designed to facilitate the retrieval and use of human SNPs for high-throughput research purposes. It provides a rich local database generated by combining SNP data with the Human Genome sequence and with several other data sources, and offers the user a variety of querying, visualization and data export tools. In this paper we describe the structure and organization of the SNPper database, we review the available data export and visualization options, and we describe how the architecture of SNPper and its specialized data structures support high-volume SNP analysis.
The rich annotation database and the powerful data manipulation and presentation facilities it offers make SNPper a very useful online resource for SNP research. Its success proves the great need for integrated and interoperable resources in the field of computational biology, and shows how such systems may play a critical role in supporting the large-scale computational analysis of our genome.
单核苷酸多态性（SNP）是遗传和生物医学研究中日益重要的工具。尽管当前的基因组数据库包含数百万个SNP的信息，并且正以极快的速度增长，但在此背景下SNP的真正价值取决于表征它的注释质量。为大量SNP检索和分析此类数据通常是大规模关联研究设计中的主要瓶颈。
SNPper是一个基于网络的应用程序，旨在促进用于高通量研究目的的人类SNP的检索和使用。它提供了一个丰富的本地数据库，该数据库通过将SNP数据与人类基因组序列以及其他几个数据源相结合而生成，并为用户提供了各种查询、可视化和数据导出工具。在本文中，我们描述了SNPper数据库的结构和组织，回顾了可用的数据导出和可视化选项，并描述了SNPper的架构及其专门的数据结构如何支持大量SNP分析。
丰富的注释数据库及其提供的强大数据处理和呈现工具使SNPper成为SNP研究非常有用的在线资源。它的成功证明了计算生物学领域对集成和可互操作资源的巨大需求，并展示了此类系统在支持我们基因组的大规模计算分析中可能发挥的关键作用。
