临床遗传学 Cartagenia Bench Lab
NGS panels, exomes, whole genomes and microarrays enable clinical genetics labs to improve the diagnostic yield and throughput to provide timely answers to referrers. To ensure clinical variant assessment happens at the highest possible standard, clinical geneticists need to have access to up-to-date knowledge bases, tools to reliably filter large numbers of variants down to relevant findings, review them against multiple inheritance hypotheses, patient phenotype, and state-of-the-art community content and knowledge – all within a traceable, clinical-grade software platform.
Learn how UMC Utrecht has implemented an automated and tiered approach for WES diagnostics using Alissa Interpret*.
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With Alissa Interpret you can easily analyze SNPs, CNVs, Indels, in one seamless analysis within the same interface. Additionally, Interpret also supports whole-genome analysis, significantly increasing the number of variants you can include in your analysis.
With Alissa Interpret, you can efficiently triage structural and molecular variants to quickly sift down to the few variants requiring manual review. With tools to automate your variant assessment protocols, you can quickly test inheritance hypotheses, check relevant annotations, and consult content to support interpretation.
Alissa Interpret helps you access more than 100 knowledge resources and databases, so you can review and assess variants in their clinical context. Flexible workflows let you collaborate within the lab to sign out cases, all while building an in-house knowledge database of variant and gene annotations, phenotype, and clinical findings.
A template-based reporting system helps you bring together relevant content into informative, clinical-grade reports. Improve turnaround times and maintain state-of-the-art, informative lab reports with Alissa Interpret’s collaborative lab report automation tools.
You can easily curate genomic variants by manually reviewing ACMG criteria according to the evidence summary provided. The combination of manual review with automated variant filtration will help you easily curate variants according to ACMG guidelines and expedite your variant interpretation workflow.
Read the whitepaper: Implementing ACMG guidelines on sequence variant interpretation: software-assisted variant curation and filtering
Learn why renowned clinical labs use Alissa Interpret to support their variant assessment and reporting workflows.
Interpret is a medical device software platform that supports your lab's accreditation and compliance through standardization, SOPs, audit trails, versioning and traceability. Regardless of whether you're working in a cytogenetics or molecular lab, Bench helps you streamline and standardize your variant interpretation and reporting workflow.
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Alissa Interpret provides instant access to a large body of up-to-date annotation sources and databases so you can rely on internal, community, and premium content to assist in accurate interpretation of genetic variants.
Labs value professionally curated content and powerful tools to complement their internal knowledge base and community resources. With Cartagenia Bench Lab you can integrate a range of content and tool providers to make sure you have access to the most recent findings on genes, variants, and their effects on phenotype.
Community efforts help assess complex cases. With the extension module Alissa Consortium labs can confidently share genetic data, clinical expertise, and case histories with colleagues in the field. We support both local and application-specific lab consortia as well as participation in public initiatives such as ClinVar, ECARUCA, and more.
Apply your lab’s knowledge in assessing new cases. With Interpret, you can collaborative build your lab’s expert knowledge base on variants, genes, clinical phenotypes, complex families, cohorts of cases, and more. Fully versioned, with revision history and curator sign-off.
Confidently share relevant findings and clinical expertise with colleagues in the field. Share allele frequencies, curated variant assessments and case phenotype summaries within communities of collaborating labs. Join local and national data sharing communities, or participate in international database initiatives.
Bench Portal helps automate your lab information flow from end-to-end, from assay requisition – with flexible web forms and structured clinical phenotype capture – to secure lab report delivery to your referring physician.
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Building a web shop for DNA assay requisition: Cartagenia Bench Portal for the Amsterdam Genome Dx consortium
Bench Connector links your lab's analytic interpretation and reporting workflow with other lab and hospital informatics systems, such as LIMS and EHR systems, reporting systems, lab data warehouses, and more.
Alissa Interpret is cloud-based, compliant, scalable, secure, up-to-date, clinical-grade cost-effective and accessible no matter where you are. As an enterprise-level solution, it allows your lab to grow volumes, improve turnaround-times, and create new services with existing resources. Ask us about customer testimonials documenting proven return-on-investment.
New sequencing and testing technologies are constantly changing and our collective understanding of the human genome is constantly improving. The Bench platform is continuously adapted to new standards and guidelines. Together we set the industry's best practices.
Alissa Interpret is a fully serviced solution. We are hands-on, available, responsive and on-call whenever you need us. Our team of PhD-level application scientists and support engineers share your level of expertise and work with you to optimize the diagnostic workflow. We address your challenges immediately and help you stay ahead in a competitive genetic testing ecosystem.
Advanced security, quality and compliance mechanisms are the foundations of Alissa Interpret. Moving forward with Bench helps provide peace of mind that your data is secure and that your processes and output comply with the highest applicable standards. Our Quality Management System is cISO9001 and cISO13485-certified. Read more about compliance and quality here