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

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

Piercing the dark matter: bioinformatics of long-range sequencing and mapping, Published online: 29 March 2018; doi:10.1038/s41576-018-0003-4

Various genomics-related fields are increasingly taking advantage of long-read sequencing and long-range mapping technologies, but making sense of the data requires new analysis strategies. This Review discusses bioinformatics tools that have been devised to handle the numerous characteristic features of these long-range data types, with applications in genome assembly, genetic variant detection, haplotype phasing, transcriptomics and epigenomics.

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