Piercing the dark matter: bioinformatics of long-range sequencing and mapping.
Published in Nature Genetics Reviews, 2018
FJ. Sedlazeck, H. Lee, CA. Darby, MC. Schatz (2018). "Piercing the dark matter: bioinformatics of long-range sequencing and mapping." Nature Genetics Reviews. https://www.nature.com/articles/s41576-018-0003-4?WT.feed_name=subjects_biological-sciences
Several new genomics technologies have become available that offer long-read sequencing or long-range mapping with higher throughput and higher resolution analysis than ever before. These long-range technologies are rapidly advancing the field with improved reference genomes, more comprehensive variant identification and more complete views of transcriptomes and epigenomes. However, they also require new bioinformatics approaches to take full advantage of their unique characteristics while overcoming their complex errors and modalities. Here, we discuss several of the most important applications of the new technologies, focusing on both the currently available bioinformatics tools and opportunities for future research.