AARDVARK: an automated reversion detector for variants affecting resistance kinetics

BIOINFORMATICS(2023)

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摘要
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. Availability and implementation: 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.
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