PMID- 19812545
OWN - NLM
STAT- MEDLINE
DCOM- 20100519
LR  - 20230606
IS  - 1476-4687 (Electronic)
IS  - 0028-0836 (Print)
IS  - 0028-0836 (Linking)
VI  - 464
IP  - 7289
DP  - 2010 Apr 1
TI  - Origins and functional impact of copy number variation in the human genome.
PG  - 704-12
LID - 10.1038/nature08516 [doi]
AB  - Structural variations of DNA greater than 1 kilobase in size account for most 
      bases that vary among human genomes, but are still relatively under-ascertained. 
      Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to 
      generate a comprehensive map of 11,700 copy number variations (CNVs) greater than 
      443 base pairs, of which most (8,599) have been validated independently. For 
      4,978 of these CNVs, we generated reference genotypes from 450 individuals of 
      European, African or East Asian ancestry. The predominant mutational mechanisms 
      differ among CNV size classes. Retrotransposition has duplicated and inserted 
      some coding and non-coding DNA segments randomly around the genome. Furthermore, 
      by correlation with known trait-associated single nucleotide polymorphisms 
      (SNPs), we identified 30 loci with CNVs that are candidates for influencing 
      disease susceptibility. Despite this, having assessed the completeness of our map 
      and the patterns of linkage disequilibrium between CNVs and SNPs, we conclude 
      that, for complex traits, the heritability void left by genome-wide association 
      studies will not be accounted for by common CNVs.
FAU - Conrad, Donald F
AU  - Conrad DF
AD  - The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, 
      Cambridge, CB10 1SA UK.
FAU - Pinto, Dalila
AU  - Pinto D
FAU - Redon, Richard
AU  - Redon R
FAU - Feuk, Lars
AU  - Feuk L
FAU - Gokcumen, Omer
AU  - Gokcumen O
FAU - Zhang, Yujun
AU  - Zhang Y
FAU - Aerts, Jan
AU  - Aerts J
FAU - Andrews, T Daniel
AU  - Andrews TD
FAU - Barnes, Chris
AU  - Barnes C
FAU - Campbell, Peter
AU  - Campbell P
FAU - Fitzgerald, Tomas
AU  - Fitzgerald T
FAU - Hu, Min
AU  - Hu M
FAU - Ihm, Chun Hwa
AU  - Ihm CH
FAU - Kristiansson, Kati
AU  - Kristiansson K
FAU - Macarthur, Daniel G
AU  - Macarthur DG
FAU - Macdonald, Jeffrey R
AU  - Macdonald JR
FAU - Onyiah, Ifejinelo
AU  - Onyiah I
FAU - Pang, Andy Wing Chun
AU  - Pang AW
FAU - Robson, Sam
AU  - Robson S
FAU - Stirrups, Kathy
AU  - Stirrups K
FAU - Valsesia, Armand
AU  - Valsesia A
FAU - Walter, Klaudia
AU  - Walter K
FAU - Wei, John
AU  - Wei J
CN  - Wellcome Trust Case Control Consortium
FAU - Tyler-Smith, Chris
AU  - Tyler-Smith C
FAU - Carter, Nigel P
AU  - Carter NP
FAU - Lee, Charles
AU  - Lee C
FAU - Scherer, Stephen W
AU  - Scherer SW
FAU - Hurles, Matthew E
AU  - Hurles ME
LA  - eng
GR  - 077009/WT_/Wellcome Trust/United Kingdom
GR  - 077008/WT_/Wellcome Trust/United Kingdom
GR  - HG004221/HG/NHGRI NIH HHS/United States
GR  - CAPMC/CIHR/Canada
GR  - 088340/WT_/Wellcome Trust/United Kingdom
GR  - R01 GM081533/GM/NIGMS NIH HHS/United States
GR  - 077014/WT_/Wellcome Trust/United Kingdom
GR  - 077006/Z/05/Z/WT_/Wellcome Trust/United Kingdom
GR  - WT_/Wellcome Trust/United Kingdom
GR  - GM081533/GM/NIGMS NIH HHS/United States
GR  - P41 HG004221/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20091007
PL  - England
TA  - Nature
JT  - Nature
JID - 0410462
SB  - IM
MH  - DNA Copy Number Variations/*genetics
MH  - Gene Duplication
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genome, Human/*genetics
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Haplotypes/genetics
MH  - Humans
MH  - Mutagenesis/*genetics
MH  - Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Racial Groups/genetics
MH  - Reproducibility of Results
PMC - PMC3330748
MID - UKMS30434
OID - NLM: UKMS30434
EDAT- 2009/10/09 06:00
MHDA- 2010/05/21 06:00
PMCR- 2012/04/20
CRDT- 2009/10/09 06:00
PHST- 2009/08/14 00:00 [received]
PHST- 2009/09/21 00:00 [accepted]
PHST- 2009/10/09 06:00 [entrez]
PHST- 2009/10/09 06:00 [pubmed]
PHST- 2010/05/21 06:00 [medline]
PHST- 2012/04/20 00:00 [pmc-release]
AID - nature08516 [pii]
AID - 10.1038/nature08516 [doi]
PST - ppublish
SO  - Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.