Genome voyager-beta-brochure
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The Genome Voyager platform enables institutions to analyze and interpret sequencing data from targeted gene panels, exomes and whole genomes to streamline the interpretation and reporting process. It provides easy-to-use filtering and visualization capabilities, facilitates collaboration between users, and utilizes a knowledge base to consolidate information and rapidly expand understanding of variants and conditions. Interested institutions can join the beta program to evaluate this solution and provide feedback.
Genome voyager-beta-brochure
- 1. Streamline Interpretation and Reporting of Panels, Exomes and Whole Genomes Medical research tells us that the keys to understanding both disease and good health are hidden inside the three billion base pairs of each human being’s genome. Advances in next generation sequencing (NGS) technology continue to accelerate the rate of discovery and lower the cost of sequencing. Consequently, more institutions are looking to perform sophis- ticated genetic analysis that can decode an individual’s genetic profile to improve prevention, diagnosis, and treatment of disease. The Genome Voyager™ interpretation and reporting platform enables institutions to analyze and interpret sequencing data from targeted gene panels, exomes and whole genomes. This solution is designed to streamline the interpretation and reporting process so institutions can reduce interpretation time and improve report quality and consistency while continuously expanding their knowledge base. Join Our Beta Program Join our beta program to evaluate and help improve the Genome Voyager solution. Visit http:// www.completegenomics.com/voyager/ to learn more and submit an application.
- 2. Easy-to-Use Filtering Quickly narrow down millions of variants to the highest priority variants in real time with easy to use filtering and sorting capabili- ties. Capabilities include filtering by gene panels, location panels, variant panels, variant attributes, variant annotations as well as filtering by matches against previous cases or known variants in the knowledge base. Comprehensive Views and Visualizations Leverage comprehensive views and visualizations with useful information for assessing the pathogenicity of variants. Variant detail screens provide comprehensive views of all available information about a variant with smart links to external resources. The built-in genome browser provides visualizations of multiple variant types including SNPs, insertions, deletions, indels, struc- tural variants as well as no-called regions. Case Interpretation Create variant interpretations that assign ACMG patho- genicity categories to variants with supporting evidence and links to references. Create condition level summa- ries of findings to include in reports. Utilize assessments about known variants in the knowledge base to increase consistency across interpretations and reduce interpreta- tion time. Report Generation and Delivery Generate and deliver reports via multiple options. Microsoft Word based templates can be used to produce branded, nicely formatted printable reports. Advanced reporting op- tions are available to create rich online interactive reports that provide summary graphics of findings with drill downs into specific results. APIs can be used to seamlessly automate the report generation process and integrate with other sys- tems and applications.
- 3. Collaboration Facilitate collaboration between users with comments, notifications and newsfeeds. Users can exchange comments on interpretations to share information and feedback. Notifications and newsfeeds alert appropriate users as comments are ex- changed. These capabilities can be used to streamline case interpretation review and approval processes. Dashboards Gain visibility into key metrics and potential opportunities to optimize performance with dashboards. Key metrics include active and historical volume of cases, average time spent per case, diagnostic yield, knowledge base growth and more. View metrics by user, by test and by time series to under- stand historical trends. Dashboards are interactive and offer drill downs to view detailed information behind each metric. Knowledge Management Utilize knowledge management capabilities to consolidate and rapidly expand the knowledge base of variants and con- ditions. Centralize knowledge about all variants seen across samples with related variant assessments including evidence, references and links to associated cases and conditions. Maintain knowledge about conditions and genes and gain visibility into variant assessments and cases associated with those conditions. Leverage the knowledge base to reduce interpretation time and improve report quality and consis- tency. Rich Annotations Access rich variant annotations to better understand the potential impact of variants. Annotations include: • Variant names that follow HGVS standards • Gene annotations for all RefSeq transcripts including gene components, functional impact and scores from prediction algorithms such as Polyphen and SIFT • Cross-reference annotations from multiple genomic data- bases such as dbSNP, DGV, Pfam and ClinVar. • Allele frequency information across public data sets such as the 1000 Genomes Project and ESP6500 as well as unique data sets such as a cohort of healthy elderly over 80. • Custom clinical annotations that can be shared or used just within the institution.
- 4. www.completegenomics.com [email protected] 2071 Stierlin Court, Mountain View, CA 94043 USA Tel +1.650.943.2800 Copyright© 2015 Complete Genomics, Inc. All rights reserved. Complete Genomics, the Complete Genomics logo and Genome Voyager are trademarks of Complete Genomics, Inc. All other brands and product names are trademarks or registered trademarks of their respective holders. [email protected] Toll-free: 1-855-CMPLETE (1-855-267-5383) or 1-650-943-2600 Information, descriptions and specifications in this publication are subject to change without notice. Published in U.S.A., May 2015, BR_GV-02 Easy to Use The Genome Voyager platform enables end-users such as genomic scientists or genetic specialists who are not bioinformati- cians to easily work with genomic information. Users can filter, view, and analyze variants through a modern and clean user interface that is powerful yet intuitive and familiar. Scalable The Genome Voyager platform is designed to scale to support millions of whole human genomes. Not ready for whole human genomes? Start with panels and then progress to exomes and whole genomes. The solution is designed for institutions of all sizes. Flexible The Genome Voyager platform has flexible deployment options. The cloud-based deployment option includes state of the art physical and logical security mechanisms, automated backups, and scalable redundant storage and compute infrastructure to de- liver a secure, high performance, high availability solution. Alternatively, for large-scale deployments, the Genome Voyager platform can be deployed on-premise. About the Beta Program The beta program is for institutions that would like to evaluate the Genome Voyager platform and provide feedback for im- provements. In exchange for their valuable time and feedback, beta program participants will be provided access to the solu- tion with agreed upon storage limits, free of charge for the duration of the beta program. Interested in joining the beta program? Visit http://www.completegenomics.com/voyager. During the beta program, access will be offered to accepted participants without any representations or warranties. The Genome Voyager platform has not been evaluated by the U.S. Food and Drug Administration or any other regulatory body for diagnostic use.