CytoScan Automated Interpretaion and Reporting (AIR) Tokens augment the visualizations of CNV gains, losses, and LOH with key clinical research interpretation information through the combination of Chromosome Analysis Suite (ChAS) Software and Franklin by Genoox.
ChAS Software offers an intuitive and flexible workflow for genetic data analysis. It is developed with the input from leading cytogeneticists and is optimized for copy number (CN) and cytogenetics research analysis and reporting.
Franklin by Genoox is an end-to-end research solution for the analysis of genetic data. The platform enables users to develop and run a diverse range of tests for multiple genetic indications. It allows users to focus on analyzing and interpreting a genetic research test efficiently. At its core, Franklin is data-driven, from variant calling to quality metrics.
Key benefits of CytoScan AIR Tokens include:
• AI-driven clinical interpretation—upload data on Franklin, a one-stop shop presenting multiple annotations on the segment and gene level (including a region browser showing gene annotations and regions within the variant), dosage sensitivity data, multiple predictors, and more
• Stay on track—each segment is classified in accordance with the most up-to-date ACMG classification guidelines. The system also provides a detailed explanation of the applied and unapplied criteria available for the evaluator.
• Customizable reporting—access ‘Report Studio’, a robust tool for authoring and issuing reports. The report automatically captures all data from the case, embedding interpreted variants along with their classification, summary, and technical information. An intuitive and easy-to-use interface enables laboratories to implement the various stages of reporting evaluation and sign-off.
• Laboratory database management and expansion—with CytoScan AIR Tokens, clinical researchers benefit from Franklin’s knowledge base that enables them to develop and curate internal databases consisting of observations, assessments, and linked evidence. Historical cases can easily be imported from ChAS, applying advanced metrics such as the internal occurrence rate of gains and losses. These are stored in the knowledge base to allow researchers to re-use curated information at their convenience.
• Be part of community driven cytogenetics research platform—Franklin seamlessly correlates the laboratory database with hundreds of thousands of key pieces of evidence by leveraging the vast amount of curated data shared by more than 20,000 of Franklin’s community members. Clinical researchers can enjoy more than 350,000 shared classifications of variants and advanced metrics.
Please contact our team of experts to learn more about CytoScan AIR Tokens and how we can help you benefit from Franklin, a powerful geno-pheno engine that collects and aggregates data from multiple sources such as ClinGen, OMIM, Decipher, GenCC, Orphanet, and others to help find the relevant condition and its fit to subject phenotypes.
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