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An overview of the overall positive genetic testing subcohort (n=43) examined <xref ref-type= a " width="250" height="auto" />
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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

An overview of the overall positive genetic testing subcohort (n=43) examined <xref ref-type= a " width="100%" height="100%">

Journal: The Application of Clinical Genetics

Article Title: Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype

doi: 10.2147/TACG.S112712

Figure Lengend Snippet: An overview of the overall positive genetic testing subcohort (n=43) examined a

Article Snippet: The blood whole-genome CNV microarray analysis was conducted by LabCorp either using 1.8 million or 2.695 million genotyping targets.

Techniques: Translocation Assay, Variant Assay, Microarray