title: Copy number variation across European populations.
abstract: Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide one such convenient and informative source. Here, we investigate copy number variants from genome wide scans of single nucleotide polymorphisms in three European population isolates, the island of Vis in Croatia, the islands of Orkney in Scotland and the South Tyrol in Italy. We show that whereas the overall copy number variant frequencies are similar between populations, their distribution is highly specific to the population of origin, a finding which is supported by evidence for increased kinship correlation for specific copy number variants within populations.
authors.affiliation: Medical Genetics Section, Centre for Molecular Medicine, Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom.
authors.forename: Wanting
authors.initials: W
authors.lastname: Chen
authors.forename: Caroline
authors.initials: C
authors.lastname: Hayward
authors.forename: Alan F
authors.initials: AF
authors.lastname: Wright
authors.forename: Andrew A
authors.initials: AA
authors.lastname: Hicks
authors.forename: Veronique
authors.initials: V
authors.lastname: Vitart
authors.forename: Sara
authors.initials: S
authors.lastname: Knott
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Wild
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: James F
authors.initials: JF
authors.lastname: Wilson
authors.forename: Igor
authors.initials: I
authors.lastname: Rudan
authors.forename: David J
authors.initials: DJ
authors.lastname: Porteous
mesh_terms: D017523:Croatia; D056915:DNA Copy Number Variations; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012606:Scotland; D044465:White People / Q000235:genetics*