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» VEGA: variational segmentation for copy number detection
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BMCBI
2010
134views more  BMCBI 2010»
13 years 10 months ago
R-Gada: a fast and flexible pipeline for copy number analysis in association studies
Background: Genome-wide association studies (GWAS) using Copy Number Variation (CNV) are becoming a central focus of genetic research. CNVs have successfully provided target genom...
Roger Pique-Regi, Alejandro Cáceres, Juan R...
IJDMB
2010
61views more  IJDMB 2010»
13 years 8 months ago
On a novel coalescent model for genome-wide evolution of Copy Number Variations
: Since we are limited in our knowledge of human demographic history and variations of recombination and mutation rates, large-scale computer simulation is a necessary tool in gene...
Antonina Mitrofanova, Bhubaneswar (Bud) Mishra
BMCBI
2010
101views more  BMCBI 2010»
13 years 10 months ago
Detection of copy number variation from array intensity and sequencing read depth using a stepwise Bayesian model
Background: Copy number variants (CNVs) have been demonstrated to occur at a high frequency and are now widely believed to make a significant contribution to the phenotypic variat...
Zhengdong D. Zhang, Mark B. Gerstein
BMCBI
2007
200views more  BMCBI 2007»
13 years 10 months ago
Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
Background: Genomic deletions and duplications are important in the pathogenesis of diseases, such as cancer and mental retardation, and have recently been shown to occur frequent...
Ágnes Baross, Allen D. Delaney, H. Irene Li...
BMCBI
2010
115views more  BMCBI 2010»
13 years 10 months ago
CONAN: copy number variation analysis software for genome-wide association studies
Background: Genome-wide association studies (GWAS) based on single nucleotide polymorphisms (SNPs) revolutionized our perception of the genetic regulation of complex traits and di...
Lukas Forer, Sebastian Schönherr, Hansi Wei&s...