whole genome chromosome single nucleotide polymorphism (snp) microarray reveal  (LabCorp)

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

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

Journal: Genes

Article Title: Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception

doi: 10.3390/genes13040643

Figure Lengend Snippet: Flowchart depicting the detailed workflow for MCC-positive POC tissue with histological assessment and OncoScan microarray analysis and reporting.

Article Snippet: The isolated DNA was analyzed using the whole-genome SNP microarray following the manufacturer′s protocol (OncoScan ® FFPE assay kit, ThermoFisher Scientific, Waltham, MA, USA).

Techniques: Microarray

Journal: Genes

Article Title: Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception

doi: 10.3390/genes13040643

Figure Lengend Snippet: Abnormal genetic aberrations detected with SNP microarray and optical genome mapping on the product of conception.

Article Snippet: The isolated DNA was analyzed using the whole-genome SNP microarray following the manufacturer′s protocol (OncoScan ® FFPE assay kit, ThermoFisher Scientific, Waltham, MA, USA).

Techniques: Microarray

Journal: medRxiv

Article Title: Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception

doi: 10.1101/2022.02.03.22269494

Figure Lengend Snippet: Flowchart depicting the detailed workflow for MCC positive POC tissue with histological assessment and Oncoscan microarray analysis and reporting.

Article Snippet: The isolated DNA was analyzed using the whole-genome SNP microarray following the manufacturer’s protocol (OncoScan® FFPE assay kit, ThermoFisher Scientific, USA).

Techniques: Microarray

Journal: medRxiv

Article Title: Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception

doi: 10.1101/2022.02.03.22269494

Figure Lengend Snippet: OncoScan analysis identifying double mosaic trisomies involving chromosomes 21 and 22 (ascertained as ∼70% mosaic gain), and a copy number gain of Chr 4q, a variant of uncertain significance: a) Whole-genome view, b) log2ratio, smooth signal, and BAF of chr 21, c) log2ratio, smooth signal, and BAF of chr 22

Article Snippet: The isolated DNA was analyzed using the whole-genome SNP microarray following the manufacturer’s protocol (OncoScan® FFPE assay kit, ThermoFisher Scientific, USA).

Techniques: Variant Assay

Journal: medRxiv

Article Title: Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception

doi: 10.1101/2022.02.03.22269494

Figure Lengend Snippet: OncoScan analysis identified 22.6 Mb copy gain of Chr 2q34q37.2 and a 6.4 Mb copy loss of Chr 2q37.2q37.3, indicating a complex rearrangement involving the long arm of chromosome 2: a) whole-genome view, b)) log2ratio, smooth signal, and BAF of chr 2.

Article Snippet: The isolated DNA was analyzed using the whole-genome SNP microarray following the manufacturer’s protocol (OncoScan® FFPE assay kit, ThermoFisher Scientific, USA).

Techniques: