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» CONAN: copy number variation analysis software for genome-wi...
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BMCBI
2010
100views more  BMCBI 2010»
13 years 5 months ago
Partitioning of copy-number genotypes in pedigrees
Background: Copy number variations (CNVs) and polymorphisms (CNPs) have only recently gained the genetic community's attention. Conservative estimates have shown that CNVs an...
Louis-Philippe Lemieux Perreault, Gregor U. Andelf...
BMCBI
2007
200views more  BMCBI 2007»
13 years 5 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
2008
138views more  BMCBI 2008»
13 years 5 months ago
Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions
Background: The power of haplotype-based methods for association studies, identification of regions under selection, and ancestral inference, is well-established for diploid organ...
Shu-Yi Su, Jonathan White, David J. Balding, Lachl...
BMCBI
2010
178views more  BMCBI 2010»
13 years 5 months ago
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
Background: Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk...
Xiaowu Gai, Juan C. Perin, Kevin Murphy, Ryan O'Ha...
BMCBI
2010
105views more  BMCBI 2010»
13 years 5 months ago
GWAMA: software for genome-wide association meta-analysis
Background: Despite the recent success of genome-wide association studies in identifying novel loci contributing effects to complex human traits, such as type 2 diabetes and obesi...
Reedik Mägi, Andrew P. Morris