MMAPPR2: Mutation Mapping from RNA Sequences

Localizing a mutation on zebrafish chromosome 5 using genotype Euclidean distance (ED) between mutant and wild-type strains, processed with smoothing and resampling.

MMAPPR2 maps mutations resulting from pooled RNA-seq data from the F2 cross of forward genetic screens. It accepts aligned BAM files as well as a reference genome as input and identifies loci of high sequence disparity between the control and mutant RNA sequences. It is significantly faster than its predecessor (Hill et al. 2013) and enhances its functionality by improving mutation localization and integrating with Ensembl’s Variant Effect Predictor, outputting a ranked list of candidate mutations.

Kyle Johnsen
Kyle Johnsen
PhD Candidate, Biomedical Engineering

My research interests include applying principles from the brain to improve machine learning.