Advanced cloud-based bioinformatics platform designed for the automated analysis, interpretation, and classification of somatic variants in oncology. Through an integrated environment, the system evaluates clinical evidence in real time, automates classification in accordance with AMP/ASCO/CAP guidelines, and provides access to currently active clinical trials.
Detailed description
Operating principle
End-to-end cloud-based solution for the clinical interpretation of NGS data focused on somatic variants. The system stands out for its flexibility, allowing direct processing of FASTQ files (generated during the run following library preparation) or VCF files, compatible with panels based on different primers for solid tumors and oncohematology.
To activate the oncology workflow, the user switches to “Somatic” mode. The core of this classification lies in the clinical context: the specific cancer type is a critical parameter used by the algorithm to dynamically calculate the hierarchy of therapeutic evidence levels under the AMP Tier system.
Once the data have been analyzed, the system centralizes the information in the Variant Exploration Hub. The platform cross-references the identified variants with public databases, expert-curated medical literature, and a real-time community network, structuring the evidence across four dimensions: therapeutic, diagnostic, prognostic, and predisposing.
Clinical applications
Interpretation of somatic variants in oncology research.
Centralized review of therapeutic, diagnostic, and prognostic evidence.
Access to clinical trials relevant to the alteration being analyzed.
Benefits
Proprietary algorithms for variant calling (SNV, CNV, Indel) and TMB calculation.
Clinical interpretation and visualization module for external genomic signatures (HRD, MSI).
Clinical trials can be filtered by phase, location, status, and date, improving the exploration of relevant research options.
Classification of somatic variants in accordance with AMP guidelines.
Therapeutic, diagnostic, prognostic, and predisposing evidence, with the level calculated according to the available evidence and the cancer type of the case.
Evidence coverage ranging from the gene level to the specific variant level.
List of relevant clinical trials.
Additional annotations in the variant assessment tab, such as COSMIC frequency.
Technology used
Cloud-based bioinformatics platform with a dedicated mode for somatic analysis.
Integration of evidence from sources such as FDA-approved drugs, NCCN guidelines, CIViC, ClinicalTrials.org, and curated literature.
AMP-based somatic classification engine.
Proprietary algorithms for variant calling (SNV, CNV, Indel) and TMB calculation.
Clinical interpretation and visualization module for external genomic signatures (HRD, MSI).
Intended audience/users
Laboratories, hospitals, and organizations specializing in genetic analysis and interpretation for research purposes.
Users with advanced expertise in genetics and variant analysis.
Key aspects
Classification dependent on tumor context.
Advanced clinical trial filters by phase, location, and status.
Clear additional annotations (e.g., COSMIC frequencies) and separation between genomic signature calculation and interpretation.
