Comparative analysis of copy number variation detection methods and database construction

Comparative Studies of Copy Number Variation Detection Methods for Next-Generation Sequencing Technologies

Copy number variation (CNV) has played an important role in studies of susceptibility or resistance to complex diseases. Traditional methods such as fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) suffer from low resolution of genomic regions. Following the emergence of next generation sequencing (NGS) technologies, CNV detection methods based on the...

Current analysis platforms and methods for detecting copy number variation.

Copy number variation (CNV), generated through duplication or deletion events that affect one or more loci, is widespread in the human genomes and is often associated with functional consequences that may include changes in gene expression levels or fusion of genes. Genome-wide association studies indicate that some disease phenotypes and physiological pathways might be impacted by CNV in a sma...

MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization

Karla de Oliveira Pelegrino, Sofia Sugayama, Karina Lezirovitz, Ana Lúcia Catelani, Fernando Kok, Maria de Lourdes Chauffaille I Instituto de Pesquisa e Desenvolvimento, Grupo Fleury, São Paulo/SP, Brazil. II Hospital das Clı́nicas da Faculdade de Medicina da Universidade de São Paulo, Departamento de Pediatria, São Paulo/SP, Brazil. III Hospital das Clı́nicas da Faculdade de Medicina da Universi...

Statistical methods for DNA copy-number detection

BIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer

Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...