LOH/UPD
Genome-Wide Genetic Analysis More flexibility. More content. CGH CGH CGH CGH Comparative Genomic Hybridization CGH2 DNA KaryotypingFISH CGH BACBacterial Artificial Chromosome acgh 60 mer 0.06 kb* BAC 100 kb FISHinterphase 20 kb FISHmetaphase 100 kb SKYSpectral Karyotyping 2 Mb Karyotyping 10 Mb * 3 YWHAE 4 kb YWHAE 4 180 K CGH+SNP ClariView ArrayClaritas Genomics CytoGenomics UCSC Genome Browser Annu Neurol. 2014 Jun; 75(6): 943-58. doi;10.1002/ana.24178 CGH CGH CGH+SNP DNA HumanMouseRat UPDLoss Of HeterozygosityLOH FFPE 1 2
CGH CGH 1 DNA DNA DNA DNA Cy5Cy3 CGH SureScan CytoGenomics Genomic WorkBench 2 3 Loss Gain 2 CGH SureScan Cy5 Cy3 4 CytoGenomics Software CytoGenomics Software CytoGenomics Compute and report gains or losses in the test DNA using software. Agilent CytoGenomics CytoGenomics CGH CGH+SNP Human LOH UPD OMIMDGV Human Genomic Workbench CytoGenomics Triage view 17 interpration tracks 3
Genome-Wide Genetic Analysis CGH DNA DNA : CRL-5929 Cancer DNA % 0 5.2 11.4 16.2 34.5 49.1 73.0 100 A. 1 1 B. 15 29 kb 3 loss CGH+SNP CGH+SNP SNP UPDLOH SNP Alu I Rsa I SNP SNP Uncut allele CGH Agilent SNP genome CGH AluI/RsaI SNP 4
CGH BRCA1 TNBC 17 1 Single Cell 1: Chr. 17 Single Cell 1: Chr. 20 Single Cell 2: Chr. 15 Figure 3. Partial and whole chromosome aberrations identified in single cells genomes. 23 BRCA1 21 BRCA1 TNBC 17 gain loss q25.3 BRCA1 TNBC 17 8 60 K SurePrint G3 Human CGH Breast Cancer Research 2014 16:466 doi;10.1186/s13058-014-0466-y Agilent SurePrint G3 Human 8 60 K CGH Reference Human Reference DNA MaleSureTag Complete DNA Labeling Kit Application Note5991-0643JAJP LOH Diploid Hemizygous deletion Trisomy Tetrasomy (identical copies) Tetrasomy (non-identical copies) SNP 4 No. of uncut alleles 3 2 1 CGH 0 cnloh/upd SNP NA06231Coriell Cell RepositoryApplication Note5990-6274EN 5
Genome-Wide Genetic Analysis Your vision. Your design. CGH CGH CGH 1 1 M 2 400 K 4 180 K 8 60 K CGH exon Median probe spacing intragenic CNV Overall G4447A SurePrint G3 Human CGH 1 1 M 1.8 kb 2.1 kb 2.1 kb G4448A SurePrint G3 Human CGH 2 400 K 4.6 kb 5.2 kb 5.3 kb G4449A SurePrint G3 Human CGH 4 180 K 11.2 kb 12.7 kb 13.1 kb G4450A SurePrint G3 Human CGH 8 60 K 33.3 kb 26.7 kb 41.4 kb G4824A#23642 SurePrint G3 Human High-Res Discovery 1 1 M* 2,628no bias * Targetted ISCA region Median probe spacing ISCA region backbone G4827A#31746 SurePrint G3 Human CGH 8 60 KISCA 500 5 kb 60 kb G4826A#31748 SurePrint G3 Human CGH 4 180 KISCA 500 5 kb 25 kb G4426B#31747 Human CGH 4 44 KISCA 230 5 kb 75 kb ISCAThe International Standards For Cytogenomic Arrays ConsortiumISCA intellectual disability clinical genetic testing 2015 7 The ClinGen Structural Variant Working Group CGH+SNP exon CGH median probe spacing LOH/UPD Intragenic Overall G4842A SurePrint G3 CGH+SNP 2 400 K 4 kb 7 Kb 5-10 Mb CGH median probe spacing LOH/UPD Targeted region Overall G4869A SurePrint G3 Cancer CGH+SNP 4 180 K* 1 probe/0.5-1 kb 25 kb 5-10 Mb G4890A SurePrint G3 CGH+SNP 4 180 K** 5 kb 25 kb 5-10 Mb * Cancer Cytogenomics Microarray Consortium ** ISCA The ClinGen Structural Variant Working Group 6
CGH 1 SureDesign SureDesign 1 GMP 1. SureDesign 2. 3. 4. 1 1 M, 2 400 K, 4 180 K, 8 60 K SureDesign Web SureDesign CGH 2,800 CGH CGH SureDesign SureDesign 7
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