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MVAR:一个鼠标变异注册表

Bahá El Kassaby¹, Francisco Castellanos¹, Matthew Gerring¹

¹The Jackson Laboratory, Bar Harbor, ME, USA.

Journal of molecular biology

|March 8, 2024

概括

鼠标变异注册表 (MVAR) 提供了鼠标遗传变异的综合数据库,包括单核酸变异和小的indels. 这个资源通过提供独特的标识符和详细的注释来促进研究,为581种老鼠菌株的9900多万种变体提供了详细的注释.

科学领域:

遗传学是一个遗传学.
生物信息学是一种生物信息学.
基因组学就是基因组学.

背景情况:

鼠标的遗传变异对于了解疾病和开发向疗法至关重要.
有效地编目和注释这些变异对于研究可重现性和发现性至关重要.

研究的目的:

建立一个可扩展和全面的注册表,用于小鼠单核酸变体和小的indels.
为鼠标遗传变异提供标准化的变异注释和独特的标识符.

主要方法:

在变体调用格式 (VCF) 中提交数据,并使用规范化过程来确保变体的独特性.
使用Ensembl的变异效应预测器 (VEP) 和Jannovar进行分子后果和影响的变异的注释.
开发应用程序编程接口 (API) 和用于访问和搜索数据的Web应用程序.

主要成果:

鼠标变异注册表 (MVAR) 目前包含超过9900万个正规单核酸变异.
数据包括来自581种不同小鼠菌株的变异.
综合性注释包括变体类型,分子后果,影响和基因组区域.

结论:

对于研究小鼠遗传变异的研究人员来说,MVAR是一种至关重要的,可扩展的资源.
该注册表通过标准化的注释和可访问的搜索功能来提高鼠标变体数据的可发现性和可用性.

关键词:

小鼠基因组的变异规范化的规范化关系型数据库是一个关系型数据库.简短的遗传变体短的遗传变体变种注释变种注释

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