title: Design and development of exome capture sequencing for the domestic pig (Sus scrofa).
abstract: BACKGROUND
  The domestic pig (Sus scrofa) is both an important livestock species and a model for biomedical research. Exome sequencing has accelerated identification of protein-coding variants underlying phenotypic traits in human and mouse. We aimed to develop and validate a similar resource for the pig.
  
  
  RESULTS
  We developed probe sets to capture pig exonic sequences based upon the current Ensembl pig gene annotation supplemented with mapped expressed sequence tags (ESTs) and demonstrated proof-of-principle capture and sequencing of the pig exome in 96 pigs, encompassing 24 capture experiments. For most of the samples at least 10x sequence coverage was achieved for more than 90% of the target bases. Bioinformatic analysis of the data revealed over 236,000 high confidence predicted SNPs and over 28,000 predicted indels.
  
  
  CONCLUSIONS
  We have achieved coverage statistics similar to those seen with commercially available human and mouse exome kits. Exome capture in pigs provides a tool to identify coding region variation associated with production traits, including loss of function mutations which may explain embryonic and neonatal losses, and to improve genomic assemblies in the vicinity of protein coding genes in the pig.
authors.forename: Christelle
authors.initials: C
authors.lastname: Robert
authors.forename: Pablo
authors.initials: P
authors.lastname: Fuentes-Utrilla
authors.forename: Karen
authors.initials: K
authors.lastname: Troup
authors.forename: Julia
authors.initials: J
authors.lastname: Loecherbach
authors.forename: Frances
authors.initials: F
authors.lastname: Turner
authors.forename: Richard
authors.initials: R
authors.lastname: Talbot
authors.forename: Alan L
authors.initials: AL
authors.lastname: Archibald
authors.forename: Alan
authors.initials: A
authors.lastname: Mileham
authors.forename: Nader
authors.initials: N
authors.lastname: Deeb
authors.forename: David A
authors.initials: DA
authors.lastname: Hume
authors.affiliation: The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK. mick.watson@roslin.ed.ac.uk.
authors.forename: Mick
authors.initials: M
authors.lastname: Watson
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D059472:Exome; D020224:Expressed Sequence Tags; D006239:Haplotypes; D007335:Insulin-Like Growth Factor II / Q000235:genetics; D058977:Molecular Sequence Annotation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D017422:Sequence Analysis, DNA; D034421:Sus scrofa / Q000235:genetics* / Q000378:metabolism
chemical_list: D043562:Receptors, G-Protein-Coupled; D007335:Insulin-Like Growth Factor II; D019869:Phosphatidylinositol 3-Kinases