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Performance evaluation method for read mapping tool in clinical panel sequencing

Lee, Hojun, Lee, Ki-Wook, Lee, Taeseob, Park, Donghyun, Chung, Jongsuk, Lee, Chung, Park, Woong-Yang, Son, Dae-Soon
Genes & genomics 2018 v.40 no.2 pp. 189-197
bioinformatics, biopsy, clinical trials, genome, high-throughput nucleotide sequencing, liquids, system optimization
In addition to the rapid advancement in Next-Generation Sequencing (NGS) technology, clinical panel sequencing is being used increasingly in clinical studies and tests. However, tools that are used in NGS data analysis have not been comparatively evaluated in performance for panel sequencing. This study aimed to evaluate the tools used in the alignment process, the first procedure in bioinformatics analysis, by comparing tools that have been widely used with ones that have been introduced recently. With the accumulated panel sequencing data, detected variant lists were cataloged and inserted into simulated reads produced from the reference genome (h19). The amount of unmapped reads and misaligned reads, mapping quality distribution, and runtime were measured as standards for comparison. As the most widely used tools, Bowtie2 and BWA–MEM each showed explicit performance with AUC of 0.9984 and 0.9970 respectively. Kart, maintaining superior runtime and less number of misaligned read, also similarly possessed high level of AUC (0.9723). Such selection and optimization method of tools appropriate for panel sequencing can be utilized for fields requiring error minimization, such as clinical application and liquid biopsy studies.