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IGVBrowser--一个来自不同印度人群的基因组变异资源。

IGVBrowser--a genomic variation resource from diverse Indian populations.

机构信息

GN Ramachandran Knowledge Centre for Genome Informatics, Institute of Genomics and Integrative Biology, Council for Scientific and Industrial Research, Mall Road, Delhi-110007, India.

出版信息

Database (Oxford). 2010 Sep 15;2010:baq022. doi: 10.1093/database/baq022.

Abstract

The Indian Genome Variation Consortium (IGVC) project, an initiative of the Council for Scientific and Industrial Research, has been the first large-scale comprehensive study of the Indian population. One of the major aims of the project is to study and catalog the variations in nearly thousand candidate genes related to diseases and drug response for predictive marker discovery, founder identification and also to address questions related to ethnic diversity, migrations, extent and relatedness with other world population. The Phase I of the project aimed at providing a set of reference populations that would represent the entire genetic spectrum of India in terms of language, ethnicity and geography and Phase II in providing variation data on candidate genes and genome wide neutral markers on these reference set of populations. We report here development of the IGVBrowser that provides allele and genotype frequency data generated in the IGVC project. The database harbors 4229 SNPs from more than 900 candidate genes in contrasting Indian populations. Analysis shows that most of the markers are from genic regions. Further, a large fraction of genes are implicated in cardiovascular, metabolic, cancer and immune system-related diseases. Thus, the IGVC data provide a basal level variation data in Indian population to study genetic diseases and pharmacology. Additionally, it also houses data on ∼50,000 (Affy 50 K array) genome wide neutral markers in these reference populations. In IGVBrowser one can analyze and compare genomic variations in Indian population with those reported in HapMap along with annotation information from various primary data sources. Database URL: http://igvbrowser.igib.res.in.

摘要

印度基因组变异联盟 (IGVC) 项目是印度科学与工业研究理事会发起的一项倡议,该项目是对印度人口进行的首次大规模综合研究。该项目的主要目标之一是研究和编目与疾病和药物反应相关的近千个候选基因的变异,以发现预测标记、鉴定起源,并解决与种族多样性、迁移、与其他世界人口的程度和相关性有关的问题。该项目的第一阶段旨在提供一组参考群体,这些群体在语言、种族和地理方面代表印度的整个遗传谱,第二阶段则在这些参考群体上提供候选基因和全基因组中性标记的变异数据。我们在此报告了 IGVBrowser 的开发,该浏览器提供了在 IGVC 项目中生成的等位基因和基因型频率数据。该数据库包含来自印度不同人群中超过 900 个候选基因的 4229 个 SNP。分析表明,大多数标记都来自基因区域。此外,很大一部分基因与心血管、代谢、癌症和免疫系统相关疾病有关。因此,IGVC 数据为研究遗传疾病和药理学提供了印度人群的基础变异数据。此外,它还存储了这些参考人群中约 50000 个(Affy 50K 阵列)全基因组中性标记的数据。在 IGVBrowser 中,人们可以分析和比较印度人群中的基因组变异与 HapMap 中报告的变异,并结合来自各种原始数据源的注释信息。数据库网址:http://igvbrowser.igib.res.in。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aeab/2942067/fe780afc50f4/baq022f1.jpg

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