TruSight Hereditary Cancer
Franklin allows for efficient integration with LIMS, EMR, and
your own organization’s information system through an API,
and also provides various ways to seamlessly import your data
in bulk. You can easily upload batches of all raw data file
formats from the BaseSpace App, as well as Amazon servers,
other cloud-based sources, or your local computer directly
through the platform’s UI.
Franklin has developed a dedicated and optimized variant detection pipeline for TruSight Hereditary Cancer Panel workflows, which is able to pick up all possible variant types on this assay. Franklin leverages BaseSpace bioinformatics to automatically call variants using the most validated and precise detection process; and also has its own dedicated pipeline to detect variants in genes with highly homologous regions such as MLH1, MSH6 and PMS2. Franklin for TSHC is also able to identify intricate Alu insertions, which are critical indicators in familial cancer patients. For CNV detection, Rainbow, Franklin’s own proprietary algorithm, uses machine learning to identify larger duplications, deletions, and some relevant rearrangements.
Developed in collaboration with experts in cancer genomics, the TruSight Hereditary Cancer Panel is a targeted sequencing panel designed to assess germline mutations across 113 genes and 125 single nucleotide polymorphisms for identification purposes and polygenic risk scoring. The assay uses predesigned, ready-to-use oligo probes that cover all exonic regions and 20 bp of flanking intronic regions for each targeted gene.
Franklin’s classification and prioritization engine leverages the power of AI to help pinpoint the relevant variants for your case, taking into molecular effect, phenotypic information, automatically-calculated ACMG classification, and recent publications. Franklin presents information from more than 100 databases including prediction tools, general and specific population frequencies, genes and diseases, with dedicated tools for genomic mutations related to familial cancer, like predictors and databases, working groups’ guidelines and recommendations, and more. The platform works as a one-stop shop for genetic evidence related to hereditary cancer, helping users gain crucial insights from all the relevant information from available sources, as well as Franklin Community data, all curated by our dedicated team of cancer genomics specialists.
Franklin will also help you seamlessly create your own Knowledge Base to centralize your organization’s exclusive variant repository composed of your unique historical data. Your curated information is then automatically integrated into each new case analysis, saving time and promoting consistency in the classification.
Working side by side with colleagues? Franklin promotes collaboration among team members by allowing you to leave comments, share relevant information and create SOPs that work specifically for your organization.
The Franklin Community comprises more than 20,000 genetic experts from around the globe, curating their real-world evidence into the platform. All users can benefit from frequency metrics, shared publications, and even variant classifications to bootstrap their clinical analysis and increase overall diagnostic accuracy.
Franklin’s Report Studio helps you generate completely
customizable clinical reports without any added work,
automatically importing all relevant insights related to
hereditary cancer into the variant interpretation text. After
completing the case review, users can issue and even sign off a
report that includes all relevant variants as well as their
interpretation and clinical evidence with the click of a button.
Customize a template that fits your needs, assign different roles
to members of your team, and save lots of time and effort while
ending up with a tailor-made report structure thoroughly
designed for your organization’s specific workflow.
Illumina's TruSight Hereditary Cancer Panel covers key guidelines for familial cancer, providing information regarding a targeted range of cancer-related germline variants. These assays enable quick and accurate assessment of genomic variation for translational and clinical oncology research, focusing on 113 key genes selected for their strong association with different cancer types such as breast, colon, ovarian and gastric cancer, based on published literature, relevant guidelines and current clinical trials. Using the TSHC panel, clinicians and researchers can analyze the exonic variants in these genes to find actionable genetic results.
The amount of data resulting from this hereditary cancer panel can be overwhelmingly complex and translate into time-consuming dry lab processing. With Franklin, you can easily analyze TruSight Hereditary Cancer cases to reach faster and more accurate results.
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Take advantage of the unique genetic dataset and curated information that Franklin Community has to offer
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