ashg presentation 2010
TRANSCRIPT
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From Genomic Studies to Cytogenetics Research —
An Integrated and Standardised Solution
Dr. Mike Evans — Chief Executive
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Today’s agenda
Welcome
Designing a genome-wide structural variant search for type 1 diabetes
loci — Stephen Rich, PhD
How to ensure the highest quality CNV results — Mike Evans, DPhil
Updates on ISCA Consortium and Database — David Ledbetter, PhD
Closing remarks
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OGT - provides advanced clinical genetics solutions
- develops innovative molecular diagnostics
Clinical and Genomic SolutionsArray services and cytogenetics products
Technologies
For Molecular
Medicine
Biomarker DiscoveryGenomic- and protein-based diagnostics
IP Licensing
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Clinical and Genomic Solutions
Cytogenetics
• CytoSure™ product range and service
Genomic services
• Genefficiency™ high throughput microarray services
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Today’s agenda
Welcome
Designing a genome-wide structural variant search for type 1 diabetes
loci — Stephen Rich, PhD
How to ensure the highest quality CNV results — Mike Evans, DPhil
Updates on ISCA Consortium and Database — David Ledbetter, PhD
Closing remarks
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Designing a Genome-wideStructural Variant Search for
Type 1 Diabetes Loci
Stephen S. Rich, PhD
November 4, 2010
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High-quality, cost effective genomic services for the following
applications:
Service Application Target Market
aCGH Copy Number variation
(CNV) detection / analysis
- GWAS
- Cancer studies
- Molecular psychiatry
miRNA miRNA expression analysis - Biomarker studies
- Cancer research
- Expression studies
Methylation Detecting epigenetic events - Epigenetic studies
- Biomarker studies
Gene
expression
Gene expression analysis - Biomarker studies
- Expression studies
What is Genefficiency™ from OGT?
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Reliably detect biologically significant CNVs
• Performance:
aCGH locates more chromosomal breakpoints at higher resolution than
other methods*
• Platform:
Agilent platform provides superior detection and quantification of CNVs.*
Superior sensitivity through long oligos (60mers)†
• People:
Our dedicated, experienced scientists are available for consultation and
support throughout your project
• Process Power: minimising technical variation
>2,000 samples per week capacity, with >40 QC checks on each sample
and proprietary LIMS, ensures quick delivery of high quality data
*Curtis, C. et al (2009) BMC Genomics 10, 588-610†Ionita-Laza, I. et al (2009) Genomics 93, 22-26
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Genefficiency™ High-Throughput Services
OXFORD GENE TECHNOLOGY
SUCCESSFULLY COMPLETES
WORLD’S LARGEST COPY
NUMBER VARIATION STUDY
Oxford, UK, May 21, 2009 - Oxford
Gene Technology (OGT), the pioneer of
microarray-based technologies, has
successfully completed processing
more than 20,000 samples that
have been generated by the Wellcome
Trust Case Control Consortium
(WTCCC), the world’s largest CNV
study involving a collaboration of 24
leading human geneticists.
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Customer satisfaction...
20,000 samples. 1,000 samples / week
―In order to characterise genetic variants,
reproducible performance and reliable processing
of the high resolution microarrays is essential. We
were pleased with OGT’s responsive approach
and attention to producing high quality data to tight
deadlines‖
Dr Matt Hurles, Wellcome Trust Sanger Institute.‖
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LIMS provides full traceability at every stage
• Customised modules for: plate handling, unique array IDs, hybridisation oven and scanner
• QC on all reagents and consumables: digest and labelling mixes,
incubation block, clean-up kit, cot-1 solution and wash solutions
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Time
DL
RS
*
Wk1 Wk190
0.1
0.2
0.3
0.4
0.5
GOOD
EXCELLENT
POORHeat
block
failure
Purification
module
failure
*DLRS –derivative log ratio spread
This metric is a measure of the quality of the data and hence confidence to detect and call CNV aberrations.
98% Pass rate of Control sample run on every plate for 19 weeks
DLR Spread of Control Samples
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Quality Management System
• Quality management system has been
certified to
• ISO 9001:2008 (Quality management
systems)
• ISO 27001 (Information security)
• ISO 17025 (Laboratory services)
ISO 9001
FS 561156
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The OGT aCGH design process
aCGH arrays
All possible human genome probes
OligomeTM database
Further selection based on OGT probe rating
and desired coverage and content
Selection based on specificity, Tm, GC, etc.
Design & hyb two different aCGH arrays
Optimised aCGH design
Selection of best performing
probes based on
experimental results
Optimised array design for genomic services
and cytogenetic products
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CytoSure cytogenetics range
high quality data
meaningful results
standardisation
• Arrays
• ISCA and Syndrome Plus
• Chromosome X
• Aneuploidy
• DMD
• New! ISCA UPD
• Labelling kit
• Software
• Oligome custom arrays
• Hyb buffers, backing plates
• Full automation options
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CytoSure™ Interpret Software - Features
• Data visualisation
meaningful results
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CytoSure™ Interpret Software - Features
• Data visualisation
• Automated aberration detection
meaningful results
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CytoSure™ Interpret Software - Features
• Data visualisation
• Automated aberration detection
• Annotation tracks
meaningful results
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CytoSure™ Interpret Software - Features
• Data visualisation
• Automated aberration detection
• Annotation tracks
• Report generation
• Batch processing
• Data management
• ...and many more – a large number as a result of customer feedback – providing
flexibility in data analysis e.g. User-defined annotation tracks
Syndromes
ExonsGenes
Recomb.
HotspotsCNVs
ConfirmationDecipher
meaningful results
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CytoSure™ Interpret Software - Features
• Data visualisation
• Automated aberration detection
• Annotation tracks
• Report generation
meaningful results
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CytoSure™ Interpret Software - Features
• Data visualisation
• Automated aberration detection
• Annotation tracks
• Report generation
• Batch processing
• Data management
meaningful results
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CytoSure™ Interpret Software - Features
• Data visualisation
• Automated aberration detection
• Annotation tracks
• Report generation
• Batch processing
• Data management
• ...and many more – a large number as a result of customer feedback – providing
flexibility in data analysis e.g. User-defined annotation tracks
meaningful results
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Today’s agenda
Welcome
Designing a genome-wide structural variant search for type 1 diabetes
loci — Stephen Rich, PhD
How to ensure the highest quality CNV results — Mike Evans, Dphil
Updates on ISCA Consortium and Database — David Ledbetter, PhD
Closing remarks
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“Our recommendation based on current evidence is to offer CMA as the first-tier genetic test, in place of G-banded karyotype, for
patients with unexplained DD/ID, ASD, or MCA.” ISCA Consortium
Yield for clinically significant CNVs in autism/ASD = 5-10%.
(may impact prognosis, identify and direct management
of medical co-morbidities, recurrence risk counseling).
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Published September 2010
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Today’s agenda
Welcome
Designing a genome-wide structural variant search for type 1 diabetes
loci — Stephen Rich, PhD
How to ensure the highest quality CNV results — Mike Evans, DPhil
Updates on ISCA Consortium and Database — David Ledbetter, PhD
Closing remarks & lunch
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CytoSure — excellence from sample to result
• Optimized, double-validated array content — regularly updated to
ISCA specifications
• Reliable detection of CNV and UPD on a single array — CytoSure
ISCA UPD array
• Effortless data analysis — easy-to-use, class-leading software
• Expert, high-throughput cytogenetics aCGH service — CytoSure
Services
The complete solution for cytogenetics — arrays (product or custom),
software, labelling, reagents, automation, services
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OGT can help!
OGT has made major investments in infrastructure and software to support disease and cytogenetics research…
Run your samples using our HT facility
• OGT has an unparalleled track record in delivering high quality data for CNV, methylation, miRNA and gene expression analysis
Design your perfect array
• OGT’s array design expertise and double-validated probes can help you design a custom array to suit your specific needs
Choose your ideal cytogenetics products
• CytoSure delivers the complete solution for cytogenetics — from sample to result
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AcknowledgementsOGT Collaborators and Customers
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Thank you
www.ogt.co.uk
Visit us at booth 1307 for more information