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A summary of <t>SNP</t> copy number changes of 12 genes in 10 SS samples by using qPCR with ABI TaqMan SNP genotyping assay to verify the results of Affymetrix 10K SNP <t>microarray</t> analysis of SS in this study. Here red-coloured rectangular bar denotes SNP copy number loss against internal controls of B2M and GAPDH, green-coloured bar stands for SNP copy number gain, yellow-coloured bar represents balanced/neutral or normal SNP copy number, and gray-coloured bar indicates noninformative. Frequent SNP copy number losses of VEGFC, FAT, NFIB, and TRIM16 are clearly visible.
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CNV, AOH detection by <t>SNP</t> <t>Microarray.</t> CEL data files generated by the Affymetrix scanner were directly analyzed using NxClinical 6.1 (BioDiscovery, LLC) for copy number variation (CNV) and copy neutral loss of heterozygosity (CN-LOH) variants at an analytical resolution of 25 kb and 3 Mb, respectively. Clinical classification codes: Red = pathogenic, Orange = likely pathogenic, Blue = VUS. A Chromosome 5 showing the 3 mosaic deletions. B Chromosome 17 showing 17p13p11.2 LOH. C Chromosome 20 showing the likely pathogenic duplication
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A summary of SNP copy number changes of 12 genes in 10 SS samples by using qPCR with ABI TaqMan SNP genotyping assay to verify the results of Affymetrix 10K SNP microarray analysis of SS in this study. Here red-coloured rectangular bar denotes SNP copy number loss against internal controls of B2M and GAPDH, green-coloured bar stands for SNP copy number gain, yellow-coloured bar represents balanced/neutral or normal SNP copy number, and gray-coloured bar indicates noninformative. Frequent SNP copy number losses of VEGFC, FAT, NFIB, and TRIM16 are clearly visible.

Journal: Genetics Research International

Article Title: Integrated Genomic Analysis of Sézary Syndrome

doi: 10.4061/2011/980150

Figure Lengend Snippet: A summary of SNP copy number changes of 12 genes in 10 SS samples by using qPCR with ABI TaqMan SNP genotyping assay to verify the results of Affymetrix 10K SNP microarray analysis of SS in this study. Here red-coloured rectangular bar denotes SNP copy number loss against internal controls of B2M and GAPDH, green-coloured bar stands for SNP copy number gain, yellow-coloured bar represents balanced/neutral or normal SNP copy number, and gray-coloured bar indicates noninformative. Frequent SNP copy number losses of VEGFC, FAT, NFIB, and TRIM16 are clearly visible.

Article Snippet: To verify the results of Affymetrix SNP microarray analysis of SS cases in this study, SNP qPCR assay was performed to test 10 DNA samples from 8 SS patients including 7 samples from 5 SS cases used in above SNP microarray and 3 samples from additional 3 SS cases ( ).

Techniques: TaqMan SNP Genotyping Assay, Microarray

CNV, AOH detection by SNP Microarray. CEL data files generated by the Affymetrix scanner were directly analyzed using NxClinical 6.1 (BioDiscovery, LLC) for copy number variation (CNV) and copy neutral loss of heterozygosity (CN-LOH) variants at an analytical resolution of 25 kb and 3 Mb, respectively. Clinical classification codes: Red = pathogenic, Orange = likely pathogenic, Blue = VUS. A Chromosome 5 showing the 3 mosaic deletions. B Chromosome 17 showing 17p13p11.2 LOH. C Chromosome 20 showing the likely pathogenic duplication

Journal: Molecular Cytogenetics

Article Title: A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report

doi: 10.1186/s13039-022-00630-0

Figure Lengend Snippet: CNV, AOH detection by SNP Microarray. CEL data files generated by the Affymetrix scanner were directly analyzed using NxClinical 6.1 (BioDiscovery, LLC) for copy number variation (CNV) and copy neutral loss of heterozygosity (CN-LOH) variants at an analytical resolution of 25 kb and 3 Mb, respectively. Clinical classification codes: Red = pathogenic, Orange = likely pathogenic, Blue = VUS. A Chromosome 5 showing the 3 mosaic deletions. B Chromosome 17 showing 17p13p11.2 LOH. C Chromosome 20 showing the likely pathogenic duplication

Article Snippet: Whole genome SNP microarray analysis was performed on genomic DNA extracted from the bone marrow aspirate using a Qiagen kit/QI Cube System.

Techniques: Microarray, Generated

Ideogrammatic representation of all copy number (CN) gains (blue), losses (red) and copy neutral LOH (yellow) detected by the microarray

Journal: Molecular Cytogenetics

Article Title: A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report

doi: 10.1186/s13039-022-00630-0

Figure Lengend Snippet: Ideogrammatic representation of all copy number (CN) gains (blue), losses (red) and copy neutral LOH (yellow) detected by the microarray

Article Snippet: Whole genome SNP microarray analysis was performed on genomic DNA extracted from the bone marrow aspirate using a Qiagen kit/QI Cube System.

Techniques: Microarray