CRISPR/Cas Mutation Screening: From Mutant Allele Detection to Prediction of Protein Coding Potential

Abstract

AbstractCRISPR/Cas is a gene-editing technique that allows for the precise and specific introduction of a mutation into a DNA sequence. The outcome of a mutation on encoded protein depends on the type of mutation (deletion, insertion and/or substitution) and the position of the mutation in the DNA sequence. It can be predicted by using screening methods that are able to identify a mutation at nucleotide level. Here, several screening methods are discussed with a difference in complexity, resolution and scalability and the results are interpretated by taken into account the central dogma of the molecular biology. Two modules of the SMAP package, SMAP haplotype-window and SMAP effect-prediction, are proposed and implemented in a high-throughput screening workflow that allows for the automated and streamlined screening of CRISPR experiments.