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Using Clinical Reports as a part of a Gene Panel Pipeline
The document outlines a webinar presentation by Hauwa Yusuf of Golden Helix, a bioinformatics company, on using clinical reports within a gene panel pipeline. It details the workflow steps involved in the vspipeline for processing genomic data, emphasizing automation and high throughput in producing clinical reports and variant lists. The presentation also invites audience questions and provides contact information for further inquiries and software evaluations.
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Using Clinical Reports as a part of a Gene Panel Pipeline
- 1. Using Clinical Reportsas Part of a Gene Panel Pipeline July 13, 2016 Hauwa Yusuf Field Application Scientist VSReports & VSPipeline
- 2. Use the Questionspane in your GoToWebinar window Questions During The Presentation
- 3. Agenda DEMO Q & A 3 4 OverviewGolden Helix1 VSPipeline2
- 4. Golden Helix –Who We Are Golden Helix is a global bioinformatics company founded in 1998. Filtering and Annotation Clinical Reports Pipeline Data Warehousing GWAS Genomic Prediction Large-N-Population Studies RNA-Seq CNV-Analysis
- 5. Over 300 customersglobally
- 6. Cited in over1000 peer-reviewed publications
- 7. Golden Helix –Who We Are When you choose a Golden Helix solution, you get more than just software § REPUTATION § TRUST § EXPERIENCE § INDUSTRY FOCUS § THOUGHT LEADERSHIP § COMMUNITY § TRAINING § SUPPORT § RESPONSIVENESS § TRANSPARENCY § INNOVATION and SPEED § CUSTOMIZATIONS
- 8. • Steps inRED are done once when designing a new workflow to be tuned to the upstream pipeline and test thresholds • Steps in BLUE are done for each sample or set of samples that should repeat the workflow • Steps in BLUE can be automated with VSPIPELINE START DESIGN PROJECT DEFINE WORKFLOW SAVE PROJECT TEMPLATE NEW PROJECT W/ TEMPLATE FINISH INTERPRET EACH SAMPLE RUN EXPORTS Design and Repeat Batch Analysis Workflow Define a workflow that is Repeated for “Batches” of Samples
- 9. VSPipeline: High Throughput,Automated § Produce Automated “Deliverables” - Filtered and annotated variant lists - Exported to Excel, VCF, Text - Clinical Report - VarSeq Projects (openable by VarSeq, VarSeq Viewer) § Deploy a Project Template - Support validation (like CAP/CLIA) - All steps logged § Integrated - Run as part of pipeline that produces BAM/VCF files.
- 10. Demo § Illumina MiniSeqTruSight Cancer Panel § Lymphoma Association § Onocgenes § Tumor Suppressor Genes § BAM and VCF files available
- 11. Questions or MoreInfo § Email info@goldenhelix.com § Request an evaluation of the software at www.goldenhelix.com
- 12. Use the Questionspane in your GoToWebinar window Questions?