Piercing the dark matter: bioinformatics of long-range sequencing and mapping.

TitlePiercing the dark matter: bioinformatics of long-range sequencing and mapping.
Publication TypeJournal Article
Year of Publication2018
AuthorsSedlazeck, FJ, Lee, H, Darby, CA, Schatz, MC
JournalNat Rev Genet
Date Published2018 Mar 29
ISSN1471-0064
Abstract

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.

DOI10.1038/s41576-018-0003-4
Alternate JournalNat. Rev. Genet.
PubMed ID29599501