Long-read sequence assembly of the gorilla genome

Accurate sequence and assembly of genomes is a critical first step for studies of genetic variation. We generated a high-quality assembly of the gorilla genome using single-molecule, real-time sequence technology and a string graph de novo assembly algorithm. The new assembly improves contiguity by...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2016-04, Vol.352 (6281), p.52-52
Main Authors: Gordon, David, Huddleston, John, Chaisson, Mark J. P., Hill, Christopher M., Kronenberg, Zev N., Munson, Katherine M., Malig, Maika, Raja, Archana, Fiddes, Ian, Hillier, LaDeana W., Dunn, Christopher, Baker, Carl, Armstrong, Joel, Diekhans, Mark, Paten, Benedict, Shendure, Jay, Wilson, Richard K., Haussler, David, Chin, Chen-Shan, Eichler, Evan E.
Format: Article
Language:English
Subjects:
Animals
Chromatin
Contig Mapping
Evolution, Molecular
Expressed Sequence Tags
Female
Genetic diversity
Genetic Variation
Genome, Human
Genomes
Genomics
Gorilla gorilla - genetics
Gorillas
Humans
RESEARCH ARTICLE SUMMARY
Sequence Alignment
Sequence Analysis, DNA - methods
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Summary:Accurate sequence and assembly of genomes is a critical first step for studies of genetic variation. We generated a high-quality assembly of the gorilla genome using single-molecule, real-time sequence technology and a string graph de novo assembly algorithm. The new assembly improves contiguity by two to three orders of magnitude with respect to previously released assemblies, recovering 87% of missing reference exons and incomplete gene models. Although regions of large, high-identity segmental duplications remain largely unresolved, this comprehensive assembly provides new biological insight into genetic diversity, structural variation, gene loss, and representation of repeat structures within the gorilla genome. The approach provides a path forward for the routine assembly of mammalian genomes at a level approaching that of the current quality of the human genome.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.aae0344