Sequencing and automated whole-genome optical mapping of the genome of a domestic goat (Capra hircus)

Nat Biotechnol. 2013 Feb;31(2):135-41. doi: 10.1038/nbt.2478. Epub 2012 Dec 23.


We report the ∼2.66-Gb genome sequence of a female Yunnan black goat. The sequence was obtained by combining short-read sequencing data and optical mapping data from a high-throughput whole-genome mapping instrument. The whole-genome mapping data facilitated the assembly of super-scaffolds >5× longer by the N50 metric than scaffolds augmented by fosmid end sequencing (scaffold N50 = 3.06 Mb, super-scaffold N50 = 16.3 Mb). Super-scaffolds are anchored on chromosomes based on conserved synteny with cattle, and the assembly is well supported by two radiation hybrid maps of chromosome 1. We annotate 22,175 protein-coding genes, most of which were recovered in the RNA-seq data of ten tissues. Comparative transcriptomic analysis of the primary and secondary follicles of a cashmere goat reveal 51 genes that are differentially expressed between the two types of hair follicles. This study, whose results will facilitate goat genomics, shows that whole-genome mapping technology can be used for the de novo assembly of large genomes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Cattle
  • China
  • Chromosome Mapping*
  • Female
  • Genome
  • Genome, Human
  • Goats / genetics*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Molecular Sequence Data
  • Synteny / genetics

Associated data

  • GENBANK/AJPT00000000
  • GEO/GSE37456