Long-read sequence assembly of the gorilla genome.
Science
; 352(6281): aae0344, 2016 Apr 01.
Article
in En
| MEDLINE
| ID: mdl-27034376
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sequence Analysis, DNA
/
Gorilla gorilla
Limits:
Animals
/
Female
/
Humans
Language:
En
Journal:
Science
Year:
2016
Document type:
Article
Affiliation country:
United States