Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays 

Rivera Brugués, Núria (Date of defense: 2012-03-20)

Genomic microarray analysis is rapidly replacing conventional chromosome analysis by molecular karyotyping due to the significant increase in the power to detect causative CNVs. Here, we extensively validated the HumanHap550 ...