Franklin’s Somatic Workflow

TruSight Myeloid

Franklin for TruSight Myeloid solution is an end-to-end suite of tools
that help you automate myeloid leukemia case analysis and save time
by combining AI technology with the richest genetic data available,
derived from public annotation, community contributions, and
Franklin’s own curated clinical evidence.

Used by top laboratories worldwide

Detection of SNPs,
CNVs and mosaics

Automated AMP and ACMG variant classification

Fast-track to report

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Franklin has been optimized for all of the TruSight workflows, including the TruSight Myeloid Sequencing Panel,
supporting each step from raw data to reporting. The platform can easily integrate with existing or new TruSight lab workflows,
using its power to efficiently process the vast amount of DNA sequencing data into clinically actionable results.

Streamline your TruSight Myeloid case analysis from FASTQ to Report,
using Franklin features such as:

Automated case creation

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. In addition to the sample-specific
quality control indicators, you can also have QC metrics for
each batch to help with quality assurance and benchmarking of
your workflow.

Variant/Biomarker detection

Franklin has developed a dedicated and optimized variant
detection pipeline for TruSight Myeloid workflows, which is
able to pick up all possible variant types on this assay, even intricate internal tandem duplications such as CEBPA and FLT-ITD. Franklin uses its own bioinformatic pipeline to identify SNPs and small insertions/deletions, combining dedicated callers and drawing on the most fitting algorithm for each step of the detection process. For CNV detection, Rainbow, Franklin’s own proprietary algorithm, uses machine learning to identify larger duplications, deletions and rearrangements.

The TruSight Myeloid Sequencing Panel covers 15 full genes (exons only) and 39 additional genes where oncogenic hotspots are covered, providing a comprehensive assessment of the key genes known to be involved in myeloid malignancies in a single test. This assay uses probes to amplify 568 amplicons from tumor suppressor genes and mutational hotspots. The result is an accurate, cost-effective solution that enables geneticists to profile liquid tumors, by detecting SNPs and CNVs in genes with critical relation to myeloid leukemias.

Variant interpretation

Franklin’s classification and prioritization engine leverages the
power of AI to help pinpoint the relevant variants for your
specific case, taking into account cancer type, updated FDA
approvals and professional guidelines, recent publications, and
clinical trials. Franklin presents information from more than 100
databases including prediction tools, normal population and
somatic frequencies, and clinical repositories, and automatically
classifies variants according to the latest AMP, ACMG, and
Oncogenic guidelines. The platform works as a one-stop shop for genetic evidence, presenting all the relevant information from available sources, as well as Franklin Community data, all
curated by our dedicated team of cancer specialists.
Particularly for myeloid tests, the platform can help you accurately monitor a patient’s minimal residual disease (MRD), one of the most powerful predictors for relapse and clinical prognosis. Franklin allows users to compare among resequencing samples and assess MRD over time, providing clinicians with insights that can have a crucial impact on treatment management and final outcomes.

Community Knowledge Base

Franklin will also help you seamlessly create your own Knowledge Base to centralize your organization’s exclusive panel, gene and 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.

Reporting

Franklin’s Report Studio helps you generate completely
customizable clinical reports without any added work. 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 Myeloid Panel
Gene List

Illumina’s TruSight Myeloid panel covers key guidelines for myeloid leukemias, providing information regarding a targeted range of cancer-related genes involved in clinical trials. These assays enable quick and accurate assessment of genomic variation for translational and clinical oncology research, focusing on 54 key genes selected for their strong association with hematologic malignancies, based on published literature, relevant guidelines and current clinical trials. Using the TruSight Myeloid Sequencing Panel, clinicians and researchers can analyze SNPs, indels, CNVs and even internal tandem duplications concurrently to find actionable genetic results.

The amount of data resulting from this PCR-based targeted assay can be overwhelmingly complex and translate into time-consuming dry lab processing. With Franklin, you can easily analyze TruSight Myeloid cases to reach faster and more accurate results.