Leveraging Expertise in
Clinical Genomics
We have built a Center of Excellence in clinical genome interpretation.
Our services cover analysis of gene panels to whole genome/exome.
Our Specialists
- Large and growing team
- Variant scientists and bioinformaticians
- ClinGen VCEP contributors
Training & Proficiency
- Rigorous training program
- Proficiency testing
- Continuous learning/development
Technical Expertise
- SNV/CNV/MTDNA interpretation
- Rare disease methodology
- Proficient in different software platforms
Process
- SOP development/adherence
- Adherence to guidelines from ACMG/ClinGen/ACGS
- Documentation for CLIA/CAP
Variant Interpretation Services
Our Variant Interpretation Services deliver expert analysis of genetic data. We provide actionable insights to support clinical decision-making.
Start-Up
Jumpstart delivery of tests faster with Zifo’s experienced variant scientists.
Ramp Up
Let Zifo train your interpretation team and develop SOPs and processes for streamlined analysis.
Production
Retain Zifo analysts as part of your team on a contract basis to support ongoing variant interpretations.
Fluctuating Volume
Utilize Zifo interpretation services to provide burst capacity anytime demand surpasses capacity.
Zifo Takes Over Where the
Wet Lab Leaves Off
Expert genome interpretation (platform agnostic) from VCF through clinical reporting
Wet lab Sequencing
From sample prep to FastQ file, this step is carried out in the ‘wet lab’ where sequence data are generated.
Variant Calling
From FastQ to VCF file, this step starts the ‘dry lab’ component where variants are identified from the sequence data.
Zifo's Role in NGS workflow
Variant Annotation
Variants are annotated with numerous data sources, allowing inference about their role in disease.
Variant Interpretation
From VCF to clinical report. Expert evaluation of variants in context of the patient to identify pathogenic variants for reporting.
Report Sign-out
Review of physician-ready report by qualified lab personnel prior to release.
Zifo GeneKB
Expertly-curated gene-level information to support selection of panel genes, variant interpretation and reporting.
Accuracy
Incorporate latest gene-specific guidelines.
Consistency
One source of baseline data for whole team.
Efficiency
Curate info upfront instead of during interpretation.
Automation
Can feed into automated variant interpretation tools.
Featured Resources