Detection of recurrent copy number alterations in the genome: taking among-subject heterogeneity seriously
Open Access
- 23 September 2009
- journal article
- research article
- Published by Springer Nature in BMC Bioinformatics
- Vol. 10 (1) , 308
Abstract
Alterations in the number of copies of genomic DNA that are common or recurrent among diseased individuals are likely to contain disease-critical genes. Unfortunately, defining common or recurrent copy number alteration (CNA) regions remains a challenge. Moreover, the heterogeneous nature of many diseases requires that we search for common or recurrent CNA regions that affect only some subsets of the samples (without knowledge of the regions and subsets affected), but this is neglected by most methods.Keywords
This publication has 62 references indexed in Scilit:
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVsNature Genetics, 2008
- A robust statistical method for case-control association testing with copy number variationNature Genetics, 2008
- Mapping and sequencing of structural variation from eight human genomesNature, 2008
- Characterizing the cancer genome in lung adenocarcinomaNature, 2007
- Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variabilityNature Reviews Genetics, 2007
- Challenges and standards in integrating surveys of structural variationNature Genetics, 2007
- Genomic rearrangements and sporadic diseaseNature Genetics, 2007
- Copy-number variation and association studies of human diseaseNature Genetics, 2007
- Methods and strategies for analyzing copy number variation using DNA microarraysNature Genetics, 2007
- Global variation in copy number in the human genomeNature, 2006