Copy-number variation and association studies of human disease
- PMID: 17597780
- DOI: 10.1038/ng2080
Copy-number variation and association studies of human disease
Abstract
The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying two thousand mendelian diseases; more recently, it has become possible to assess systematically the contribution of common SNPs to complex disease. The known role of copy-number alterations in sporadic genomic disorders, combined with emerging information about inherited copy-number variation, indicate the importance of systematically assessing copy-number variants (CNVs), including common copy-number polymorphisms (CNPs), in disease. Here we discuss evidence that CNVs affect phenotypes, directions for basic knowledge to support clinical study of CNVs, the challenge of genotyping CNPs in clinical cohorts, the use of SNPs as markers for CNPs and statistical challenges in testing CNVs for association with disease. Critical needs are high-resolution maps of common CNPs and techniques that accurately determine the allelic state of affected individuals.
Similar articles
-
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.Nat Rev Genet. 2007 Aug;8(8):639-46. doi: 10.1038/nrg2149. Nat Rev Genet. 2007. PMID: 17637735 Review.
-
Copy-number variation in control population cohorts.Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R168-73. doi: 10.1093/hmg/ddm241. Hum Mol Genet. 2007. PMID: 17911159 Review.
-
Extending genome-wide association studies to copy-number variation.Hum Mol Genet. 2008 Oct 15;17(R2):R135-42. doi: 10.1093/hmg/ddn282. Hum Mol Genet. 2008. PMID: 18852202 Review.
-
Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.BMC Genomics. 2007 Jul 3;8:211. doi: 10.1186/1471-2164-8-211. BMC Genomics. 2007. PMID: 17608949 Free PMC article.
-
Common deletions and SNPs are in linkage disequilibrium in the human genome.Nat Genet. 2006 Jan;38(1):82-5. doi: 10.1038/ng1695. Epub 2005 Dec 4. Nat Genet. 2006. PMID: 16327809
Cited by
-
Mosaic loss of chromosome Y is associated with common variation near TCL1A.Nat Genet. 2016 May;48(5):563-8. doi: 10.1038/ng.3545. Epub 2016 Apr 11. Nat Genet. 2016. PMID: 27064253 Free PMC article.
-
Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression.PLoS Comput Biol. 2016 May 13;12(5):e1004871. doi: 10.1371/journal.pcbi.1004871. eCollection 2016 May. PLoS Comput Biol. 2016. PMID: 27177143 Free PMC article.
-
Active transposition in genomes.Annu Rev Genet. 2012;46:651-75. doi: 10.1146/annurev-genet-110711-155616. Annu Rev Genet. 2012. PMID: 23145912 Free PMC article. Review.
-
Estimating copy numbers of alleles from population-scale high-throughput sequencing data.BMC Bioinformatics. 2015;16 Suppl 1(Suppl 1):S4. doi: 10.1186/1471-2105-16-S1-S4. Epub 2015 Jan 21. BMC Bioinformatics. 2015. PMID: 25707811 Free PMC article.
-
The Evolution of tRNA Copy Number and Repertoire in Cellular Life.Genes (Basel). 2022 Dec 22;14(1):27. doi: 10.3390/genes14010027. Genes (Basel). 2022. PMID: 36672768 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
