%0 Journal Article
%T insiM: in silico Mutator Software for Bioinformatics Pipeline Validation of Clinical Next-Generation Sequencing Assays
%A Ibro Mujacic
%A Jeremy P. Segal
%A Lauren L. Ritterhouse
%A Sabah Kadri
%A Sushant A. Patil
%J The Journal of Molecular Diagnostics
%D 2019
%R 10.1016/j.jmoldx.2018.08.001
%X Lack of reliable reference samples containing different mutations of interest across
large sets of disease-relevant loci limits the extensive validation clinical next-generation
sequencing (NGS) assays and their associated bioinformatics pipelines. Herein, we
have generated a publicly available, highly flexible tool, in silico Mutator (insiM),
to introduce point mutations, insertions, deletions, and duplications of any size
into real data sets of amplicon-based or hybrid-capture NGS assays. insiM accepts
an alignment file along with target territory and produces paired-end FASTQ files
containing specified mutations via modification of original sequencing reads.
%U https://jmd.amjpathol.org/article/S1525-1578(18)30106-5/fulltext