斯里兰卡基因组变异数据库

P. Samarakoon, R. Jayasekara, V. Dissanayake
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引用次数: 6

摘要

斯里兰卡基因组变异数据库(SLGVD)是一个在斯里兰卡的三个主要民族——僧伽罗人、斯里兰卡泰米尔人和摩尔人——中发现的单核苷酸多态性数据库。在过去几年中,对斯里兰卡人口中不同群体个体之间基因变异的研究稳步增长。这些研究产生了大量的遗传数据,这些数据对于研究不同种族群体之间不同的疾病发生率非常重要。因此,有必要为这些数据建立一个中央存储库。SLGVD的创建就是为了填补这一空白。SLGVD提供基于网络的访问斯里兰卡人的遗传变异信息。它也将成为研究和临床目的的重要信息学工具。该数据库的设计符合人类基因组变异学会(HGVS)发布的指南。除了变异数据外,每个变异都与美国国家生物技术信息中心(NCBI)的人类在线孟德尔遗传(OMIM)、dbSNP和GenBank数据库的相关条目相关联。不同族群各变异的基因型和等位基因频率以数字和图形形式表示。SLGVD可以在http://hgucolombo.org/SLGVD.aspx上免费在线访问。DOI: http://dx.doi.org/10.4038/sljbmi.v2i1.2861斯里兰卡生物医学信息学杂志2011;2: 9-20
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Sri Lankan Genome Variation Database
The Sri Lankan Genome Variation Database (SLGVD) is a database of single nucleotide polymorphisms found in Sinhalese, Sri Lankan Tamils and Moors - the three major ethnic groups in Sri Lanka. Studies of variations in genes among different groups of individuals in the Sri Lankan population have grown steadily during the past few years. These studies generate large amounts of genetic data that is important to study the occurrences of diseases that differ across ethnic groups. There is therefore a need for a central repository of this data. The SLGVD was created to fulfill this void. The SLGVD offers web based access to genetic variation information of Sri Lankan people. It would also be an important informatics tool for both research and clinical purposes. The database was designed conforming to guidelines issued by the Human Genome Variation Society (HGVS). In addition to variation data each variation is linked with the relevant entries of Online Mendelian Inheritance in Man (OMIM), dbSNP and GenBank databases at the National Centre of Biotechnology Information (NCBI), USA. Genotype and allele frequencies of each variation in different ethnic groups are represented in numerical and graphical format. The SLGVD can be freely accessed online at http://hgucolombo.org/SLGVD.aspx . DOI: http://dx.doi.org/10.4038/sljbmi.v2i1.2861 Sri Lanka Journal of Bio-Medical Informatics 2011; 2 :9-20
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