Title
Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome
Date Issued
30 March 2017
Access level
open access
Resource Type
journal article
Author(s)
Bickhart D.M.
Rosen B.D.
Koren S.
Sayre B.L.
Hastie A.R.
Chan S.
Lee J.
Lam E.T.
Liachko I.
Sullivan S.T.
Burton J.N.
Huson H.J.
Nystrom J.C.
Kelley C.M.
Hutchison J.L.
Zhou Y.
Sun J.
Crisà A.
Schwartz J.C.
Hammond J.A.
Waldbieser G.C.
Schroeder S.G.
Liu G.E.
Dunham M.J.
Shendure J.
Sonstegard T.S.
Phillippy A.M.
Van Tassell C.P.
Smith T.P.L.
National Human Genome Research Institute
Publisher(s)
Nature Publishing Group
Abstract
The decrease in sequencing cost and increased sophistication of assembly algorithms for short-read platforms has resulted in a sharp increase in the number of species with genome assemblies. However, these assemblies are highly fragmented, with many gaps, ambiguities, and errors, impeding downstream applications. We demonstrate current state of the art for de novo assembly using the domestic goat (Capra hircus) based on long reads for contig formation, short reads for consensus validation, and scaffolding by optical and chromatin interaction mapping. These combined technologies produced what is, to our knowledge, the most continuous de novo mammalian assembly to date, with chromosome-length scaffolds and only 649 gaps. Our assembly represents a ∼4400-fold improvement in continuity due to properly assembled gaps, compared to the previously published C. hircus assembly, and better resolves repetitive structures longer than 1 kb, representing the largest repeat family and immune gene complex yet produced for an individual of a ruminant species.
Start page
643
End page
650
Volume
49
Issue
4
Language
English
OCDE Knowledge area
Genética, Herencia Ciencia veterinaria
Scopus EID
2-s2.0-85014528210
PubMed ID
Source
Nature Genetics
ISSN of the container
10614036
Sponsor(s)
National Human Genome Research Institute R01HG006283, ZIAHG200398 National Institute of General Medical Sciences P41GM103533 Biotechnology and Biological Sciences Research Council BB/M027155/1, BBS/E/I/00001710
Sources of information: Directorio de Producción Científica Scopus