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VAREANT:一种用于基因变异减少和注释的生物信息应用

Rishabh Narayanan¹, William DeGroat¹, Elizabeth Peker¹

¹Rutgers Institute for Health, Health Care Policy and Aging Research, Rutgers, The State University of New Jersey, New Brunswick, NJ 08901, United States.

Bioinformatics advances

|February 10, 2025

概括

研究人员现在可以更容易地分析基因组变异数据,使用VAREANT,一个新的生物信息工具. 该应用程序简化了数据准备,使生物标志物和疾病洞察力更快地被发现.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.
计算生物学计算生物学

背景情况:

高质量的基因组变异数据分析对于理解人类基因组,识别生物标志物和破译生物途径至关重要.
尽管基因组数据的可用性增加,但数据准备的可访问生物信息工具仍然有限.
处理基因组数据的挑战包括大量数据,高计算成本和提取相关信息的困难.

研究的目的:

介绍VAREANT,一个可访问和可配置的生物信息应用程序,旨在简化基因组变异数据的准备.
提供一个工具,将原始变体数据转化为分析准备的格式,促进下游研究.

主要方法:

VAREANT由三个模块组成:用于数据过的预处理,用于添加元数据的变量注释,以及用于创建机器学习准备数据集的AI/ML数据准备.
该工具支持复杂变异数据集的细粒度过,并集成最新的公共注释数据库.
它旨在创建AI/ML准备的数据集,使用用户最小的预处理.

主要成果:

在不同大小的数据集上成功测试和验证了VAREANT.
该应用程序在两个涉及心血管疾病患者的案例研究中实施.
该工具有效地准备基因组变异数据用于分析,注释和机器学习应用.

结论:

VAREANT为准备基因组变异数据提供了全面的解决方案,解决了当前的可访问性和处理限制.
该应用程序增强了基因组数据的可用性,用于生物标志物发现,患者分层和途径分析.
作为开源代码,VAREANT是可用的,促进了研究界更广泛的采用和贡献.

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