ASHG Presentation
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Transcript of ASHG Presentation
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Unique cytogenetic dGH™ and Pinpoint FISH™ platform for disease research, mutation detection and diagnosis
Verification of the Human Genome Database Contig Orientation using custom dGH Assay
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dGH* Chromatid Assays
*Directional Genomic Hybridization
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Detect Translocations and Inversions* in a single simple assay
*Plus other rearrangements and many types of mutations
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Inversions and…
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…Translocations, Dicentrics…
(plus another inversion)
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Multi-‐Colored Specific Inversion Assay Highlighting Breakpoints in Green
(inversion)
(normal)
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Use dGH Probes for Pinpoint FISH Assays
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High resolution FISH assays using single stranded probes • Probes designed using KromaTiD’s proprietary
bioinformatics tools • No Repetitive Sequences; COT Free
High Resolution By Design with 6KB Targets
Pinpoint FISH
Metaphase
7q22CUX1 FISH Probe GREEN 5q31KIF20A FISH PROBE RED
Interphase
Better performance in existing platform and equipment • Applicable in both interphase and metaphase
cells
7q22CUX1 FISH Probe GREEN 5q31KIF20A FISH PROBE RED
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Multi-‐Colored FISH Assay with 10 kb Resolution
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Pinpoint FISH Performance
Better Performance • 3X the relative signal; 3X the resolution
• 6X the signal-‐to-‐noise ratio; 50% lower background
Easier to Use • Free of repetitive sequences by design -‐-‐ no blocking
required
• Consistent hybridization quality
Flexible Design & Reliable Synthesis • Synthetic probes vs. cloned DNA
• Detect smaller mutations and mutations with variable breakpoints
Single Stranded Defined Probes
PinPoint FISH Assay
Commercial BAC Assay
dGH Assay has equivalent signal for 1/3 the target size
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Nuclear Co-‐Localization Assay • Probes Designed for Two Separate Targets on
Chromosome 3
Positive
Negative
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Assays Customized for Your Mutation Detection
Needs
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h-‐TERC Pinpoint FISH Probe
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Multiplex Pinpoint FISH Deletion Assay
Signal indicated presence of target. Deletion would be detected by absence of expected signal.
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True Single Cell Analysis
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Track Nearly Any Gene
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Probes to the human RET oncogene ( red) and the remainder of chromosome 10 (green) track rearrangements in thyroid cancer cells
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Validate Your Array or Sequencing Results
Efficiently and Effectively
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Normal Chromosome 10 Chromosome 10
with RET/PTC1 inversion
inversion
2
C10 RET/PTC1 Inversion Assay probes detecting the RET/PTC1 inversion (signal conformational change) in cancer cells positive for the mutation in one copy of
Chromosome 10
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Available as 10 or 50 Assay Kits or…
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Let KromaTiD perform your Assay and Deliver
the Data
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Screening & Discovery Services
1. Study Design • Collaboratively define assay specifications • Identify scope and requirements for screening
2. Assay Development • Bioinformatics analysis of target chromosomes, arms, or
regions • Paint design and production
3. Validation • Assay positive and negative controls • Quantitative and qualitative optimization
4. Screening & Discovery • Assay kit assembly for customer use or • Arrange shipment of samples for KromaTiD to perform
screening and analysis
Working with KromaTiD to ID Clinical Mutations
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Custom Targeted Mutation Assays
1. Design Collaboration • Identify your target region or mutation of interest • Discuss assay format
2. Development • Bioinformatics analysis of target region • Probe design and production
3. Validation • Test probes • Assay optimization
4. Production • Generate assay kits or • Provide service-‐based assay and results
Design to shipping in three weeks
Inversion
C22 -‐Transloca-on From C11
C22 Normal
C3 Control
C3 Control
C11-‐Transloca-on From C22
CH12-‐022 lymphoblast cells
Newly Discovered Duplication
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How Can We Help?