01
One intelligent pipeline
Quality control, alignment, variant calling, annotation, and prioritisation flow together with traceable logic.
→FASTQ›BAM›VCF›REPORT
CLINICAL GENOMICS, REIMAGINED
From raw reads
to clear decisions.
Helixia turns complex NGS data, family history, and trusted knowledge into one focused clinical story—built for the people who make every diagnosis count.
01Evidence-led02Patient-aware03Lab-ready
GENOME MAPhg38 · 24 chromosomes
ANALYSIS READYEvidence matched
98.7%clinical confidence
GENETIC LABSCLINICIANSMOLECULAR BOARDSRESEARCH TEAMS
01 — THE PLATFORM
The intelligence layer
between genome and care.
One calm workspace for every step of genomic interpretation. Designed around clinical thinking—not around file formats.
02
Phenotype-aware analysis
Connect symptoms, HPO terms, onset, and family context to the variants that matter most.
HPOPedigreeOnset
03
Knowledge, kept current
Bring together OMIM, ClinVar, gnomAD, ACMG evidence, and your lab’s own knowledge base.
OMIMClinVarACMG+
02 — THE WORKFLOW
A pipeline that
speaks clinical.
From local FASTQ files to a report your team can trust, every handoff is visible, reproducible, and ready for review.
PrepareSample & quality control
ProcessAlign & call variants
InterpretAnnotate & prioritise
ReportReview & communicate
● running
› input 24 chromosomes · paired-end reads
› context pedigree connected · 12 phenotype terms
› evidence OMIM + ClinVar + gnomAD + ACMG
✓ output 4 prioritised candidates · report ready
92QC score
● Ready for review03 — CONTEXT MATTERS
Let the family
story guide the search.
Upload or draw a pedigree, record affected status and inheritance clues, and let Helixia turn family context into stronger variant prioritisation.
II-1
II-2
III-1
III-2
III-3
AffectedCarrierUnaffected
Inheritance patternsAutosomal dominant · likely
96%Phenotype alignment12 HPO terms connected
88%Candidate prioritisation4 variants moved to review
4×04 — CONNECTED EVIDENCE
Every result has
a reason.
Helixia connects the variant to the evidence around it, helping your team move from “what changed?” to “what does it mean?” with confidence.
Preview a report ↗OMIMgene–disease
ClinVarclinical assertions
gnomADpopulation frequency
ACMGclassification rules
Vvariant
evidence
evidence
05 — THE OUTCOME
A report built for
the next conversation.
Clear summaries for clinicians. Auditable detail for geneticists. A patient-aware narrative that keeps the decision at the centre.
HELIXIA CLINICAL REPORTPatient profile & interpretation● Reviewed
PRIMARY FINDING
PATHOGENICBRCA1 · c.5266dupC
Pathogenic variant consistent with the reported phenotype and family history.
INHERITANCEAutosomal dominant
CONFIDENCEHigh · 97%
RECOMMENDATIONClinical review
06 — START A CONVERSATION
Make every genome
move care forward.
Bring Helixia to your lab, clinic, or molecular board. Let’s shape a smarter interpretation workflow together.