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

Sedlazeck, F. J., Lee, H., Darby, C. A., Schatz, M. C. (June 2018) Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet, 19 (6). pp. 329-346. ISSN 1471-0056

URL: https://www.ncbi.nlm.nih.gov/pubmed/29599501
DOI: 10.1038/s41576-018-0003-4

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.

Item Type: Paper
Subjects: bioinformatics
bioinformatics > genomics and proteomics > Mapping and Rendering
Investigative techniques and equipment > assays > long-read sequencing
Investigative techniques and equipment > assays > next generation sequencing
CSHL Authors:
Communities: CSHL labs > Schatz lab
Depositing User: Matt Covey
Date: June 2018
Date Deposited: 05 Apr 2018 20:12
Last Modified: 01 Jun 2018 19:54
Related URLs:
URI: http://repository.cshl.edu/id/eprint/36342

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