GeneSpect Reporterfor Oncology
Complete genomic interpretation across the full breadth of oncology - solid tumors, hematological malignancies and hereditary cancer, resolved into evidence-based findings.
One genomic workflow orevery form of cancer
Every cancer type asks a different genomic question. What drives a solid tumor is not what stratifies a leukemia, and neither resembles an assessment of inherited risk. When each question needs its own pipeline, laboratories carry the cost of maintaining them all - and the risk that findings fall between them. GeneSpect Somatic Reporter handles them within one validated workflow, applying the variant classes and guidelines each domain requires.
Solid tumors
Comprehensive tumor profiling across a diverse set of variants - SNVs, indels, CNVs, fusions, TMB - supported in both tumor-only and matched tumor-normal analysis.
Hematological malignancies
Molecular subtyping of heterogeneous blood cancers through precise detection of the diagnostic and prognostic variants that define them, extending to technically demanding events.
Hereditary cancer
A standalone germline analysis of inherited cancer predisposition, identifying specific genetic tumor syndromes with preventive guidance annotated for every finding.
Every genomic angle of cancer,in a single analysis
Cancer presents a complex genomic landscape, shaped simultaneously by small variants, structural rearrangements, copy-number changes and genome-wide signatures. Each class is detected within the same analysis, drawing on DNA and RNA evidence together, resolving the full tumor picture at once.
Comprehensive variant calling
Every core variant class - SNVs, indels, CNVs and fusions - called together, with TMB and MSI derived in the same run. Tumor-only and matched tumor-normal are equally supported, and matched analyses surface germline findings without running a separate pipeline.
Copy number resolved at every scale
Deletions, duplications and amplifications are resolved at gene level, and the same analysis extends to arm-level and whole-chromosome changes - each annotated with its clinical significance. Loss of heterozygosity and copy-neutral LOH are called alongside, with every result explorable through interactive visualization.
Targeted and partner-agnostic fusion calling
Partner-specific calling covers established fusion targets; partner-agnostic calling identifies rearrangements with novel or unreported partners, ensuring discovery is not constrained by a predefined list. Reciprocal events, reading frame and supporting evidence are reported for each call. RNA-seq provides the primary evidence for fusion detection, and results can be integrated with DNA-seq analysis in the same case - linking transcript-level findings to their genomic origin. Each fusion is visualized at exon resolution, with the breakpoint marked.
Complex variants and genome-wide measures
Internal tandem duplications, partial tandem duplications and exon-skipping events (e.g. MET ex14) each require detection logic that standard variant calling does not provide. All three are resolved within the same analysis, with duplication length, allelic ratio and reading frame reported for every call. Tumor mutational burden and microsatellite instability are computed from the same data, using the coverage already generated for variant detection.
DDR pathway deficiency at gene resolution
Homologous recombination deficiency (HRD) and mismatch repair deficiency (MMRd) are assessed through the genes that drive each pathway, with variants in the relevant repair machinery identified and classified directly.
Variant annotation
OncoSpect Knowledge Hub: multi-source variantevidence, resolved into one interpretation
Interpreting a somatic variant means reconciling public repositories, licensed clinical databases and the published literature - each structured differently, and each incomplete on its own. OncoSpect synthesizes evidence across all of them, weighting each source by the strength of its assertion and the tumor type it applies to, and resolving the result into a single prioritized interpretation.
Built in-house
+4000
evidence entries
IntelliKB
A proprietary knowledge base built in-house, focused on the variants of greatest clinical significance. Assembled through manual review of FDA drug approvals and guidelines from NCCN, WHO, ELN and ICC - Somatic branch holds 2,000+ variants across 500+ genes, Germline branch covers 100+ predisposition genes and 70+ hereditary tumor syndromes.
Licensed
+50,000
variants
Genomenon’s Cancer Knowledgebase (CKB)
An expert-curated clinical knowledgebase designed to bridge the gap between genomic diagnosis and targeted treatment - delivering gene- and variant-level insights alongside FDA drug labels, literature citations, and over 16,000 active clinical trials to empower clinicians and researchers in driving precision oncology forward.
open sources
+50
databases
Public databases
ClinVar, CIViC, cBioPortal, CancerHotspots, BRCA Exchange, TP53 database and more - contributing variant pathogenicity, somatic recurrence and population frequency.
Automated AMP/ASCO/CAP classification,reproducible and reviewer-controlled.
Assigning tiers between Tier I and Tier IV demands structured evidence review, and performed manually that review introduces inter-observer variability across reviewers and batches. Automated pre-classification scores each criterion the same way every time, while the definitive assessment remains with the reviewer, who confirms or reclassifies each variant in VariantMINER.
Consistent tier assignment across reviewers, samples and runs
Evidence reconciled against the specific tumor type under analysis
An auditable evidence trail behind every criterion scored
Report inclusion decided by the reviewer, with somatic and germline origin marked on each variant
See how GeneSpect Somatic Reporter can simplify analysis and reporting for your laboratory.
GeneSpect SomaticReporter Resources
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Intelliseq at ACMG Annual Clinical Genetics Meeting 2026
Intelliseq will be exhibiting at the ACMG Annual Clinical Genetics Meeting 2026, taking place on March 11–13, 2026, in Baltimore, USA. During the conference, our team will present GeneSpect solutions designed to support genomic data interpretation in clinical and research settings. Visitors will hav
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Intelliseq Talk at LIMR - From Variant Calling to Functional Insights
We had the privilege of delivering our talk “Genomic workflows: From variant calling to functional insights in cardiovascular applications” at the Lankenau Institute for Medical Research (LIMR), thanks to the invitation extended by Dr. Héctor Barajas-Martínez. The presentation explored how modern ge
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Case studyFrom exome data to molecular diagnosis - automated tertiary analysis in hereditary hearing loss
In a University of Kentucky pilot study, iFlow's automated tertiary analysis matched expert review in diagnosing hereditary hearing loss, cutting manual interpretation time.
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NewsIntelliseq at AACR Annual Meeting 2026
Intelliseq will exhibit at the AACR Annual Meeting 2026 in San Diego, presenting GeneSpect Reporters for genomic data interpretation and reporting.
