Lin, Timothy. Developing a nanopore sequencing data processing pipeline for structure variation identification. Retrieved from https://doi.org/doi:10.7282/t3-f6me-bg19
DescriptionMany genomic sequencing technologies have been developed since the Human Genome Project. These next-generation sequencing (NGS) technologies from various companies reshaped the genomics field and have improved rapidly. However, NGS has limitations for certain applications due to its short read length. The third generation of sequencing technology uses single molecule real-time sequencer that can generate long reads. Recently Oxford Nanopore entered the market with the release of its MinION sequencer. Oxford Nanopore's unique third generation sequencing technology allows for much longer read length than NGS technologies, potentially addressing some of the limitations of NGS. Due to the novelty of nanopore sequencing technology, the available tools for aligning long read data and detecting structural variants have not been thoroughly evaluated. Here we evaluate the performance of several alignment and structural variation detection tools on long read MinION data.