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GeneSpect Reporter
for Inherited and Rare Disorders

Complete germline interpretation across the full scope of inherited and rare disorders - from complex variant identification to actionable findings.

A cluster of inherited-disorder genes the platform reports on: CFTR, LDLR, PAH, FBN1 and SMN1

Resolving germline complexity demandsmore than a single answer

Every germline case presents a distinct clinical puzzle. Resolving complex phenotypes, interpreting intricate inheritance patterns, and weighing variant evidence often requires balancing multiple fragmented pipelines. GeneSpect Hereditary Reporter consolidates these needs into a single validated workflow, dynamically adjusting analytical depth to match any indication

  • Rare disease

    Phenotype-driven investigations for WES and WGS data where the causal gene is unknown. ExploRare resolves the phenotypes into ranked disease candidates, while VarMatch scores every variant against HPO terms, inheritance, and evidence - delivering a prioritized shortlist ready for final review.

  • Inherited disorders

    Targeted screening across custom and disease-oriented gene panels. Designed for defined indications, the workflow systematically isolates pathogenic and likely pathogenic variants across dominant, recessive, and X-linked traits for streamlined review.

  • Carrier status

    Targeted carrier status analysis for recessive and X-linked conditions. Isolates single-allele variants in asymptomatic samples to clarify inherited risk for potential offspring.

  • Hereditary cancer

    Focused germline analysis tailored to cancer susceptibility panels. Evaluates inherited variants across defined gene sets for major genetic tumor syndromes, matching findings directly to established syndrome management options.

One comprehensive germline workflow, from complex variant identificationto actionable shortlist.

  • SNVs, indels & non-coding variants

    Substitutions, insertions and deletions across coding regions, splice sites and deep-intronic positions.

  • Structural events

    Copy-number variants and short tandem repeat expansions detected within the same workflow, each classified against a dedicated ACMG criterion set.

  • Mitochondrial variants

    Variants across the mitochondrial genome with heteroplasmy quantified per call.

  • Phenotype-driven prioritization

    HPO terms and free-text descriptions are resolved through the proprietary ExploRare algorithm and matched to diseases in OMIM and Orphanet, with scores carried into gene prioritization.

  • Pedigree-based analysis

    Proband, duo and trio modes supported, with kinship assessment and inheritance resolution across the parental samples available.

  • Compound heterozygosity

    Two hits on the same gene resolved as in cis or in trans, using parental sequencing where available.

  • De novo variant detection

    Variants present in the proband but absent from both parents, identified through trio analysis.

  • Evidence-based prioritization

    VarMatch weighs phenotype, gene–disease evidence, inheritance and ACMG into one ranked shortlist.

Guided variant prioritization

Structured phenotypes, prioritized variants, actionable findings - in one workflow.

Phenotype resolution through ExploRare

Translating a clinical presentation into a genomic search is one of the least precise steps in germline analysis. Descriptions rarely reduce to a single ontology term, and the same presentation is often consistent with a broad set of candidate diseases. ExploRare addresses this by normalizing HPO terms and free-text input into a structured phenotypic profile, matched against disease associations from OMIM and Orphanet. Each candidate disease receives a match score, which is propagated to the associated genes. Variants in those genes carry the same weight into prioritization, making phenotypic evidence an intrinsic component of the ranking process.

From Millions of Variants to a Prioritized Shortlist

VarMatch is a proprietary variant prioritization algorithm designed to transform complex genomic datasets into a structured, prioritized review list. By evaluating every variant through multi-layered scoring - combining quality controls, population frequency, inheritance models, and HPO phenotype matching - it instantly surfaces the highest-priority candidates most likely to explain the case, while keeping the complete set of identified variants fully transparent and accessible throughout.

All called variants

184,720

Quality and population frequency

3,420

Instance and sgregation

612

Phenotype amd gene-disease

47

Top 20 candidates

VarMatch places the twenty highest-scoring candidates at the head of the review, indicating where analytical attention is best directed first. The complete variant set remains accessible throughout.

Actionable Secondary Findings on Demand

Maximize the value of every genomic sample by identifying high-impact, medically actionable risks beyond the primary indication. The GeneSpect Hereditary Reporter enables seamless opt-in to secondary variant screening during any run, automatically evaluating data against the latest ACMG Secondary Findings gene list to deliver comprehensive insights without requiring separate re-analysis.

ACMG Secondary Findings

Secondary findings unrelated to the primary diagnostic indication were evaluated according to the current ACMG recommendations (ACMG v3.3 list of actionable genes).

Gene

BRCA2

Variant

NM_000059.4:c.36dup (p.Glu13Ter)

Allele status

Heterozygous

Variant allelic fraction (VAF)

52.7%

ClinVar interpretation

Pathogenic

ACMG classification

Pathogenic

Every finding, its evidence and its context - in one workspace.

All findings are delivered to VariantMINER for further manual review - the workspace where each step of the analysis converges. Every ranked candidate arrives with its ACMG classification, its evidence and its inheritance context. Reviewers can refine the phenotype, update HPO terms, reclassify variants and confirm or exclude findings, with each change recorded and carried through to the final report.

A VariantMINER variant detail view for a BRCA1 frameshift variant, showing its ClinVar pathogenic classification, in-silico predictors and population frequency

Full access to the Top 20 shortlist and every remaining variant, with the analytical context of each preserved

Phenotype and HPO terms updated on demand, without a full re-run

Automated ACMG classification supplemented with reviewer-supplied criteria

Every action recorded, with a complete audit trail behind each decision

See how GeneSpect Hereditary Reporter can simplify analysis and reporting for your laboratory.

GeneSpect HereditaryReporter Resources

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