| References |
|
|
Aitman TJ,
Dong R,
Vyse TJ et al.
(2006)
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
.
Nature
16:
851–855.
|
|
|
Aldred PM,
Hollox EJ and
Armour JA
(2005)
Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA.
Human Molecular Genetics
14:
2045–2052.
|
|
|
Conrad DF,
Andrews TD,
Carter NP,
Hurles ME and
Pritchard JK
(2006)
A high-resolution survey of deletion polymorphism in the human genome.
Nature Genetics
38:
75–81.
|
|
|
Eichler EE
(2006)
Widening the spectrum of human genetic variation.
Nature Genetics
38:
9–11.
|
|
|
Fellermann K,
Stange DE,
Schaeffeler E et al.
(2006)
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.
American Journal of Human Genetics
79:
439–448.
|
|
|
Freeman JL,
Perry GH,
Feuk L et al.
(2006)
Copy number variation: new insights in genome diversity.
Genome Research
16:
949–961.
|
|
|
Friedman JM,
Baross A,
Delaney AD et al.
(2006)
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
American Journal of Human Genetics
79:
500–513.
|
|
|
Goidts V,
Cooper DN,
Armengol L et al.
(2006)
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.
Human Genetics
120:
270–284.
|
|
|
Gonzalez E,
Kulkarni H,
Bolivar H et al.
(2005)
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
Science
307:
1434–1440.
|
|
|
Gratacos M,
Nadal M,
Martin-Santos R et al.
(2001)
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders.
Cell
106:
367–379.
|
|
|
Hinds DA,
Kloek AP,
Jen M,
Chen X and
Frazer KA
(2006)
Common deletions and SNPs are in linkage disequilibrium in the human genome.
Nature Genetics
38:
82–85.
|
|
|
Iafrate AJ,
Feuk L,
Rivera MN et al.
(2004)
Detection of large-scale variation in the human genome.
Nature Genetics
36:
949–951.
|
|
|
Koolen DA,
Vissers LE,
Pfundt R et al.
(2006)
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Nature Genetics
38:
999–1001.
|
|
|
Lee JA,
Madrid RE,
Sperle K et al.
(2006)
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Annals of Neurology
59:
398–403.
|
|
|
Linzmeier RM and
Ganz T
(2005)
Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.
Genomics
86:
423–430.
|
|
|
Locke DP,
Sharp AJ,
McCarroll SA et al.
(2006)
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.
American Journal of Human Genetics
79:
275–290.
|
|
|
McCarroll SA,
Hadnott TN,
Perry GH et al.
(2006)
Common deletion polymorphisms in the human genome.
Nature Genetics
38:
86–92.
|
|
|
Nguyen DQ,
Webber C and
Ponting CP
(2006)
Bias of selection on human copy number variants.
PLoS Genetics
2:
e20.
|
|
|
Perry GH,
Tchinda J,
McGrath SD et al.
(2006)
Hotspots for copy number variation in chimpanzees and humans.
Proceedings of the National Academy of Sciences of the USA
103:
8006–8011.
|
|
|
Redon R,
Iskikawa S,
Fitch KR et al.
(2006)
Global variation in copy number in the human genome.
Nature
444:
444–454.
|
|
|
Rovelet-Lecrux A,
Hannequin D,
Raux G et al.
(2006)
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Nature Genetics
38:
24–26.
|
|
|
Sebat J,
Lakshmi B,
Troge J et al.
(2004)
Large-scale copy number polymorphism in the human genome.
Science
305:
525–528.
|
|
|
Sharp AJ,
Locke DP,
McGrath SD et al.
(2005)
Segmental duplications and copy number variation in the human genome.
American Journal of Human Genetics
77:
7888.
|
|
|
Sharp AJ,
Hansen S,
Selzer RR et al.
(2006)
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
National Genetics
38:
1038–1042.
|
|
|
Shaw-Smith C,
Pittman AM,
Willatt L et al.
(2006)
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
National Genetics
8:
1032–1037.
|
|
|
Singleton AB,
Farrer M,
Johnson J et al.
(2003)
alpha-Synuclein locus triplication causes Parkinson's disease.
Science
302:
841.
|
|
|
Stefansson H,
Helgason A,
Thorleifsson G et al.
(2005)
A common inversion under selection in Europeans.
Nature Genetics
37:
129–137.
|
|
|
Tuzun E,
Sharp AJ,
Bailey JA et al.
(2005)
Fine-scale structural variation of the human genome.
Nature Genetics
37:
727–732.
|
|
|
Wilson GM,
Flibotte S,
Chopra V et al.
(2006)
DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling.
Human Molecular Genetics
15:
743–749.
|
|
|
Wong KK,
deLeeuw RJ,
Dosanjh NS et al.
(2006)
A comprehensive analysis of common copy number variations in the human genome.
American Journal of Human Genetics
80:
91–104.
|
|
|
Yu CE,
Dawson G,
Munson J et al.
(2002)
Presence of large deletions in kindreds with autism.
American Journal of Human Genetics
71:
100–115.
|
| Further Reading |
|
|
Feuk L,
Carson AR and
Scherer SW
(2006)
Structural variation in the human genome.
Nature Reviews Genetics
7:
85–97.
|
|
|
Ingelman-Sundberg M
(2005)
Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity.
Pharmacogenomics Journal
5:
6–13.
|
|
|
Lupski JR and
Stankiewicz P
(2005)
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
PLoS Genetics
1:
e49.
|
|
|
Nadeau JH and
Lee C
(2006)
Copies count.
Nature
439:
798–799.
|
