Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays
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 and Human610-Quadv1_B Illumina platforms for potential diagnostic applicati...
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| Format: | Doctoral Thesis |
| Language: | English |
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Universitat de Barcelona
2012
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| Online Access: | http://hdl.handle.net/10803/81745 |