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印度遗传疾病数据库。

Indian genetic disease database.

作者信息

Pradhan Sanchari, Sengupta Mainak, Dutta Anirban, Bhattacharyya Kausik, Bag Sumit K, Dutta Chitra, Ray Kunal

机构信息

Structural Biology and Bioinformatics Division, Indian Institute of Chemical Biology, Unit of CSIR, Kolkata, India.

出版信息

Nucleic Acids Res. 2011 Jan;39(Database issue):D933-8. doi: 10.1093/nar/gkq1025. Epub 2010 Oct 30.

DOI:10.1093/nar/gkq1025
PMID:21037256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3013653/
Abstract

Indians, representing about one-sixth of the world population, consist of several thousands of endogamous groups with strong potential for excess of recessive diseases. However, no database is available on Indian population with comprehensive information on the diseases common in the country. To address this issue, we present Indian Genetic Disease Database (IGDD) release 1.0 (http://www.igdd.iicb.res.in)--an integrated and curated repository of growing number of mutation data on common genetic diseases afflicting the Indian populations. Currently the database covers 52 diseases with information on 5760 individuals carrying the mutant alleles of causal genes. Information on locus heterogeneity, type of mutation, clinical and biochemical data, geographical location and common mutations are furnished based on published literature. The database is currently designed to work best with Internet Explorer 8 (optimal resolution 1440 × 900) and it can be searched based on disease of interest, causal gene, type of mutation and geographical location of the patients or carriers. Provisions have been made for deposition of new data and logistics for regular updation of the database. The IGDD web portal, planned to be made freely available, contains user-friendly interfaces and is expected to be highly useful to the geneticists, clinicians, biologists and patient support groups of various genetic diseases.

摘要

印度人约占世界人口的六分之一,由数千个实行族内通婚的群体组成,隐性疾病高发的可能性很大。然而,目前尚无一个关于印度人口的数据库能全面提供该国常见疾病的信息。为解决这一问题,我们推出了印度遗传疾病数据库(IGDD)1.0版(http://www.igdd.iicb.res.in)——一个不断整合和整理的知识库,收录了越来越多影响印度人群的常见遗传疾病的突变数据。目前该数据库涵盖52种疾病,包含5760名携带致病基因突变等位基因个体的信息。基于已发表的文献,提供了关于基因座异质性、突变类型、临床和生化数据、地理位置以及常见突变等信息。该数据库目前设计为在Internet Explorer 8(最佳分辨率1440×900)上运行效果最佳,可根据感兴趣的疾病、致病基因、突变类型以及患者或携带者的地理位置进行搜索。已做好了存储新数据的准备以及数据库定期更新的安排。IGDD门户网站计划免费开放,具有用户友好界面,预计对各类遗传疾病的遗传学家、临床医生、生物学家和患者支持团体非常有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db4f/3013653/fb6757cf352a/gkq1025f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db4f/3013653/6db118f1cdc1/gkq1025f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db4f/3013653/fb6757cf352a/gkq1025f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db4f/3013653/6db118f1cdc1/gkq1025f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db4f/3013653/fb6757cf352a/gkq1025f2.jpg

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