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» Software comparison for evaluating genomic copy number varia...
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BMCBI
2011
12 years 8 months ago
Software comparison for evaluating genomic copy number variation for Affymetrix 6.0 SNP array platform
Background: Copy number data are routinely being extracted from genome-wide association study chips using a variety of software. We empirically evaluated and compared four freely-...
Jeanette E. Eckel-Passow, Elizabeth J. Atkinson, S...
BMCBI
2007
200views more  BMCBI 2007»
13 years 4 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
178views more  BMCBI 2010»
13 years 4 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
134views more  BMCBI 2010»
13 years 4 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...
BMCBI
2010
100views more  BMCBI 2010»
13 years 4 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...