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首个针对特定族群目标分子变异的马来人数据库。

The first Malay database toward the ethnic-specific target molecular variation.

作者信息

Halim-Fikri Hashim, Etemad Ali, Abdul Latif Ahmad Zubaidi, Merican Amir Feisal, Baig Atif Amin, Annuar Azlina Ahmad, Ismail Endom, Salahshourifar Iman, Liza-Sharmini Ahmad Tajudin, Ramli Marini, Shah Mohamed Irwan, Johan Muhammad Farid, Hassan Nik Norliza Nik, Abdul-Aziz Noraishah Mydin, Mohd Noor Noor Haslina, Nur-Shafawati Ab Rajab, Hassan Rosline, Bahar Rosnah, Zain Rosnah Binti, Yusoff Shafini Mohamed, Yusoff Surini, Tan Soon Guan, Thong Meow-Keong, Wan-Isa Hatin, Abdullah Wan Zaidah, Mohamed Zahurin, Abdul Latiff Zarina, Zilfalil Bin Alwi

机构信息

Department of Pediatric, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150, Kelantan, Malaysia.

Faculty of Medicine, Universiti Sultan Zainal Abidin (UniSZA), 20400, Kuala Terengganu, Terengganu, Malaysia.

出版信息

BMC Res Notes. 2015 Apr 30;8:176. doi: 10.1186/s13104-015-1123-y.

DOI:10.1186/s13104-015-1123-y
PMID:25925844
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4440489/
Abstract

BACKGROUND

The Malaysian Node of the Human Variome Project (MyHVP) is one of the eighteen official Human Variome Project (HVP) country-specific nodes. Since its inception in 9(th) October 2010, MyHVP has attracted the significant number of Malaysian clinicians and researchers to participate and contribute their data to this project. MyHVP also act as the center of coordination for genotypic and phenotypic variation studies of the Malaysian population. A specialized database was developed to store and manage the data based on genetic variations which also associated with health and disease of Malaysian ethnic groups. This ethnic-specific database is called the Malaysian Node of the Human Variome Project database (MyHVPDb).

FINDINGS

Currently, MyHVPDb provides only information about the genetic variations and mutations found in the Malays. In the near future, it will expand for the other Malaysian ethnics as well. The data sets are specified based on diseases or genetic mutation types which have three main subcategories: Single Nucleotide Polymorphism (SNP), Copy Number Variation (CNV) followed by the mutations which code for the common diseases among Malaysians. MyHVPDb has been open to the local researchers, academicians and students through the registration at the portal of MyHVP ( http://hvpmalaysia.kk.usm.my/mhgvc/index.php?id=register ).

CONCLUSIONS

This database would be useful for clinicians and researchers who are interested in doing a study on genomics population and genetic diseases in order to obtain up-to-date and accurate information regarding the population-specific variations and also useful for those in countries with similar ethnic background.

摘要

背景

人类变异组计划马来西亚节点(MyHVP)是人类变异组计划(HVP)18个官方特定国家节点之一。自2010年10月9日成立以来,MyHVP吸引了大量马来西亚临床医生和研究人员参与并为该项目贡献数据。MyHVP还充当马来西亚人群基因型和表型变异研究的协调中心。开发了一个专门的数据库,用于存储和管理基于与马来西亚族群健康和疾病相关的基因变异的数据。这个特定族群的数据库被称为人类变异组计划马来西亚节点数据库(MyHVPDb)。

研究结果

目前,MyHVPDb仅提供有关马来人中发现的基因变异和突变的信息。在不久的将来,它也将扩展到其他马来西亚族群。数据集根据疾病或基因突变类型进行分类,有三个主要子类别:单核苷酸多态性(SNP)、拷贝数变异(CNV),以及编码马来西亚人常见疾病的突变。MyHVPDb已通过在MyHVP门户网站(http://hvpmalaysia.kk.usm.my/mhgvc/index.php?id=register)注册,向当地研究人员、院士和学生开放。

结论

该数据库对于有兴趣开展基因组人群和遗传疾病研究的临床医生和研究人员很有用,可帮助他们获取有关特定人群变异的最新准确信息,对于具有相似族群背景的国家的人员也很有用。

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