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Clinical Genomics

Accelerating Clinical Genetic Interpretations

Zifo helps clinical labs deliver high-quality genetic tests using next-
generation sequencing, from test design to physician reports.

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.

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Compact Team Customers Experts

Our Specialists

  • Large and growing team
  • Variant scientists and bioinformaticians
  • ClinGen VCEP contributors

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Training & Proficiency

  • Rigorous training program
  • Proficiency testing
  • Continuous learning/development

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Technical Expertise

  • SNV/CNV/MTDNA interpretation
  • Rare disease methodology
  • Proficient in different software platforms

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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.

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Start-Up

Jumpstart delivery of tests faster with Zifo’s experienced variant scientists.

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Ramp Up

Let Zifo train your interpretation team and develop SOPs and processes for streamlined analysis.

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Production

Retain Zifo analysts as part of your team on a contract basis to support ongoing variant interpretations.

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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

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Wet lab Sequencing

From sample prep to FastQ file, this step is carried out in the ‘wet lab’ where sequence data are generated.

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Compact Variant Calling

Variant Calling

From FastQ to VCF file, this step starts the ‘dry lab’ component where variants are identified from the sequence data.

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Zifo's Role in NGS workflow

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Compact Variant Annotation

Variant Annotation

Variants are annotated with numerous data sources, allowing inference about their role in disease.

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Compact Variant Annotation

Variant Interpretation

From VCF to clinical report. Expert evaluation of variants in context of the patient to identify pathogenic variants for reporting.

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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.

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Accuracy

Incorporate latest gene-specific guidelines.

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Consistency

One source of baseline data for whole team.

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Efficiency

Curate info upfront instead of during interpretation.

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Automation

Can feed into automated variant interpretation tools.

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