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BMCBI
2010
130views more  BMCBI 2010»
14 years 11 months ago
MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligat
Background: Multiplex Ligation-Dependent Probe Amplification (MLPA) is an application that can be used for the detection of multiple chromosomal aberrations in a single experiment...
Ronald van Eijk, Paul H. C. Eilers, Remco Natt&eac...
BMCBI
2010
178views more  BMCBI 2010»
14 years 11 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
162views more  BMCBI 2010»
14 years 11 months ago
SNP-RFLPing 2: an updated and integrated PCR-RFLP tool for SNP genotyping
Background: PCR-restriction fragment length polymorphism (RFLP) assay is a cost-effective method for SNP genotyping and mutation detection, but the manual mining for restriction e...
Hsueh-Wei Chang, Yu-Huei Cheng, Li-Yeh Chuang, Che...
BMCBI
2010
115views more  BMCBI 2010»
14 years 11 months ago
Integration of multiple data sources to prioritize candidate genes using discounted rating system
Background: Identifying disease gene from a list of candidate genes is an important task in bioinformatics. The main strategy is to prioritize candidate genes based on their simil...
Yongjin Li, Jagdish Chandra Patra
BMCBI
2010
170views more  BMCBI 2010»
14 years 11 months ago
Integrative analysis of gene expression and copy number alterations using canonical correlation analysis
Background: With the rapid development of new genetic measurement methods, several types of genetic alterations can be quantified in a high-throughput manner. While the initial fo...
Charlotte Soneson, Henrik Lilljebjörn, Thoas ...