MapCaller - An integrated and efficient tool for short-read mapping and variant calling using high-throughput sequenced data

Lin, H.-N.; Hsu, W.-L.

doi:10.1101/783605

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bioRxiv · 10.1101/783605

MapCaller - An integrated and efficient tool for short-read mapping and variant calling using high-throughput sequenced data

Lin, H.-N.·Hsu, W.-L.

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Abstract

With the advance of next-generation sequencing (NGS) technologies, more and more medical and biological researches adopt NGS technologies to characterize the genetic variations between individuals. The identification of personal genome variants using NGS technology is a critical factor for the success of clinical genomics studies. It requires an accurate and consistent analysis procedure to distinguish functional or disease-associated variants from false discoveries due to sequencing errors or misalignments. In this study, we integrate the algorithms for read mapping and variant calling to develop an efficient and versatile NGS analysis tool, called MapCaller. It not only maps every short read onto a reference genome, but it also detects single nucleotide variants, indels, inversions and translocations at the same time. We evaluate the performance of MapCaller with existing variant calling pipelines using three simulated datasets and four real datasets. The result shows that MapCaller can identify variants accurately. Moreover, MapCaller runs much faster than existing methods. It is available at https://github.com/hsinnan75/MapCaller.

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Lin, H.-N., Hsu, W.-L.. 2019-09-26. MapCaller - An integrated and efficient tool for short-read mapping and variant calling using high-throughput sequenced data. https://doi.org/10.1101/783605

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