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Finding mutations using third-generation sequencing results

Project as part of the Bioinformatics class at the Faculty of Electrical Engineering and Computing at the University of Zagreb.

Authors: Andrej Mijić, Ilija Domislović, Zorica Žitko.

Installation instructions

Run make, then run make clean.

Running the program

Run mutation_checker with all 7 input arguments.

Ulazni argumenti:
kmer_size - Length of substring which will be indexed.
minimizer_size - Length of each minimizer.
number_of_threads - The number of threads the program will use.
mutation_voting_threshold - Threshold that defines how many aligned sequences need to vote for a mutation for that mutation to be entered into the final solution.
reference_genome_path - Path to reference genome file.
sequencing_results_path - Path to sequencing results file.
output_path - Path to output .csv file.

Evaluating results

Run jaccard.py -a <path_1> -b <path_2>

For path 1 and path 2 use the output of the mutation_checker program and the actual list of mutations.

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