MutScan: fast detection and visualization of target mutations by scanning FASTQ data.

ABSTRACT:

Background

Some types of clinical genetic tests, such as cancer testing using circulating tumor DNA (ctDNA), require sensitive detection of known target mutations. However, conventional next-generation sequencing (NGS) data analysis pipelines typically involve different steps of filtering, which may cause miss-detection of key mutations with low frequencies. Variant validation is also indicated for key mutations detected by bioinformatics pipelines. Typically, this process can be executed using alignment visualization tools such as IGV or GenomeBrowse. However, these tools are too heavy and therefore unsuitable for validating mutations in ultra-deep sequencing data.

Result

We developed MutScan to address problems of sensitive detection and efficient validation for target mut

SUBMITTER: Chen S 

PROVIDER: S-EPMC5778627 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature