AARDVARK: 一款用于检测影响耐药性动力学的变种的自动回归侦测器。
AARDVARK: An Automated Reversion Detector for Variants Affecting Resistance Kinetics.
发表日期:2023 Aug 16
作者:
Thaidy Moreno, Joaquin Magana, David A Quigley
来源:
BIOINFORMATICS
摘要:
抵抗针对缺乏DNA修复功能的肿瘤的两类FDA批准治疗的原因是突变恢复了肿瘤细胞的DNA修复功能。目前,鉴定这些“回转”突变需要手动注释患者肿瘤序列数据。本文介绍了AARDVARK,这是一个基于R语言实现的软件包,可以从DNA序列数据中自动识别回转突变。AARDVARK在R( > = 3.5)中实现。它可在GitHub上获取,网址为https://github.com/davidquigley/aardvark。它是根据MIT许可证授权的。© The Author(s) 2023. Published by Oxford University Press.
Resistance to two classes of FDA-approved therapies that target DNA repair-deficient tumors is caused by mutations that restore the tumor cell's DNA repair function. Identifying these "reversion" mutations currently requires manual annotation of patient tumor sequence data. Here we present AARDVARK, an R package that automatically identifies reversion mutations from DNA sequence data.AARDVARK is implemented in R ( > = 3.5). It is available on GitHub at https://github.com/davidquigley/aardvark. It is licensed under the MIT license.© The Author(s) 2023. Published by Oxford University Press.