Abstract
The computational reconstruction of genome sequences from shotgun sequencing data has been greatly simplified by the advent of sequencing technologies that generate long reads. In the case of relatively small genomes (e.g., bacterial or viral), complete genome sequences can frequently be reconstructed computationally without the need for further experiments. However, large and complex genomes, such as those of most animals and plants, continue to pose significant challenges. In such genomes, assembly software produces incomplete and fragmented reconstructions that require additional experimentally derived information and manual intervention in order to reconstruct individual chromosome arms. Recent technologies originally designed to capture chromatin structure have been shown to effectively complement sequencing data, leading to much more contiguous reconstructions of genomes than previously possible. Here, we survey these technologies and the algorithms used to assemble and analyze large eukaryotic genomes, placed within the historical context of genome scaffolding technologies that have been in existence since the dawn of the genomic era.
Highlights
The increased availability and lower cost of DNA sequencing have revolutionized biomedical research
Typical genome assemblies of eukaryotic genomes are highly fragmented, comprising tens to hundreds of thousands of contiguous genomic segments. This fact was recognized from the early days of genomics, and scientists have developed techniques that can generate information complementary to that contained in the reads
In the context of repeat resolution, the orientation and distance constraints imposed by paired reads limit the number of possible traversals of the graph through a repeat region and can link together the unique genomic regions surrounding each instance of a repeat
Summary
Large and complex genomes, such as those of most animals and plants, continue to pose significant challenges In such genomes, assembly software produces incomplete and fragmented reconstructions that require additional experimentally derived information and manual intervention in order to reconstruct individual chromosome arms. Recent technologies originally designed to capture chromatin structure have been shown to effectively complement sequencing data, leading to much more contiguous reconstructions of genomes than previously possible. We survey these technologies and the algorithms used to assemble and analyze large eukaryotic genomes, placed within the historical context of genome scaffolding technologies that have been in existence since the dawn of the genomic era
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