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Updated: Jan 1, 2026

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
AlleleProfileR: A versatile tool to identify and profile sequence variants in edited genomes
Arne A N Bruyneel1,2, Alexandre R Colas3, Ioannis Karakikes1,4
1Stanford Cardiovascular Institute, Stanford School of Medicine, Stanford, CA United States of America.
Abstract:
Gene editing strategies, such as zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeat/Cas9 (CRISPR/Cas9), are revolutionizing biology. However, quantitative and sensitive detection of targeted mutations are required to evaluate and quantify the genome editing outcomes. Here we present AlleleProfileR, a new analysis tool, written in a combination of R and C++, with the ability to batch process the sequence analysis of large and complex genome editing experiments, including the recently developed base editing technologies.
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