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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...
BIOINFORMATICS
2010
170views more  BIOINFORMATICS 2010»
13 years 5 months ago
Joint estimation of DNA copy number from multiple platforms
DNA copy number variants (CNV) are gains and losses of segments of chromosomes, and comprise an important class of genetic variation. Recently, various microarray hybridization ba...
Nancy R. Zhang, Yasin Senbabaoglu, Jun Z. Li
BMCBI
2011
12 years 8 months ago
Wavelet-based identification of DNA focal genomic aberrations from single nucleotide polymorphism arrays
Background: Copy number aberrations (CNAs) are an important molecular signature in cancer initiation, development, and progression. However, these aberrations span a wide range of...
Youngmi Hur, Hyunju Lee
BMCBI
2011
12 years 8 months ago
Genotype calling in tetraploid species from bi-allelic marker data using mixture models
Background: Automated genotype calling in tetraploid species was until recently not possible, which hampered genetic analysis. Modern genotyping assays often produce two signals, ...
Roeland E. Voorrips, Gerrit Gort, Ben Vosman
BMCBI
2007
104views more  BMCBI 2007»
13 years 4 months ago
A response to Yu et al. "A forward-backward fragment assembling algorithm for the identification of genomic amplification and de
Background: Yu et al. (BMC Bioinformatics 2007,8: 145+) have recently compared the performance of several methods for the detection of genomic amplification and deletion breakpoin...
Oscar M. Rueda, Ramón Díaz-Uriarte