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    GEBRA NGS Variant Interpretation Platform

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    Deployed on AWS
    GEBRA is a cloud-based NGS variant interpretation platform for clinical WES/WGS analysis, rare disease case review, variant prioritization, ACMG-based interpretation, CNV/SV review, and reanalysis workflows.

    Overview

    GEBRA is a clinical NGS variant interpretation platform designed to help genetic laboratories and clinical teams analyze, prioritize, interpret, and review genomic variants from rare disease WES and WGS cases.

    Built for end-to-end interpretation workflows, GEBRA supports both FASTQ- and VCF-based analysis, enabling laboratories to move from raw sequencing data or existing variant files to structured clinical review. The platform integrates phenotype-driven variant prioritization, ACMG-based interpretation support, CNV/SV review, report preparation, and reanalysis workflows in a single cloud environment.

    GEBRA is especially suited for laboratories handling rare disease, inherited disease, pediatric genetics, and unresolved WES/WGS cases. By combining automated prioritization with expert review workflows, GEBRA helps clinical teams reduce manual review burden, standardize interpretation processes, and revisit previously unresolved cases with updated evidence and analysis logic.

    For laboratories building or scaling in-house genomic testing capabilities, GEBRA provides a practical interpretation workflow that supports clinical NGS data review without requiring teams to maintain complex bioinformatics infrastructure internally.

    Key Features

    • Clinical NGS variant interpretation platform for WES and WGS data
    • Supports FASTQ- and VCF-based workflows
    • Phenotype-driven variant prioritization using HPO-based clinical information
    • ACMG-based interpretation support for clinical variant review
    • SNV, indel, CNV, and SV review workflows
    • Rare disease-focused case analysis and candidate variant prioritization
    • Reanalysis workflow for previously unresolved cases
    • Cloud-based access for distributed clinical and laboratory teams
    • Designed to support scalable interpretation workflows for genetic testing laboratories

    Typical Use Cases

    • Rare disease WES/WGS interpretation
    • Unresolved case reanalysis
    • Clinical exome and genome variant review
    • In-house NGS interpretation workflow setup
    • Variant prioritization for pediatric and inherited disease cases
    • Standardized review workflow for clinical genetics teams

    Highlights

    • End-to-end NGS variant interpretation workflow for rare disease analysis, from sequencing data and variant calls to clinical review and reporting
    • Broad variant support across SNV/indel, CNV, structural variants, mobile element insertions, and repeat expansions in one cloud-based platform
    • AI-powered prioritization and ACMG-based interpretation support to help clinical teams review candidate variants faster and more consistently

    Details

    Delivery method

    Deployed on AWS
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    Pricing

    GEBRA NGS Variant Interpretation Platform

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    Pricing is based on actual usage, with charges varying according to how much you consume. Subscriptions have no end date and may be canceled any time.
    Additional AWS infrastructure costs may apply. Use the AWS Pricing Calculator  to estimate your infrastructure costs.

    Usage costs (12)

     Info
    Dimension
    Description
    Cost/unit
    Exome_Proband_FASTQ
    WES FASTQ Proband
    $85.00
    Exome_Proband_VCF
    WES VCF Proband
    $70.00
    Exome_Duo_FASTQ
    WES FASTQ Duo
    $170.00
    Exome_Duo_VCF
    WES VCF Duo
    $105.00
    Exome_Trio_FASTQ
    WES FASTQ Trio
    $255.00
    Exome_Trio_VCF
    WES VCF Trio
    $140.00
    Genome_Proband_FASTQ
    WGS FASTQ Proband
    $205.00
    Genome_Proband_VCF
    WGS VCF Proband
    $130.00
    Genome_Duo_FASTQ
    WGS FASTQ Duo
    $410.00
    Genome_Duo_VCF
    WGS VCF Duo
    $195.00

    Vendor refund policy

    In cases where analysis is not actually performed due to input errors or unmet system processing conditions, automatic billing or test creation failure may still occur. The Company shall provide advance guidance where possible and may manually adjust billing or restore credits upon Customer request if a valid reason is confirmed.

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    Usage information

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    Delivery details

    Software as a Service (SaaS)

    SaaS delivers cloud-based software applications directly to customers over the internet. You can access these applications through a subscription model. You will pay recurring monthly usage fees through your AWS bill, while AWS handles deployment and infrastructure management, ensuring scalability, reliability, and seamless integration with other AWS services.

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    Support

    Vendor support

    Support Email : gebra@3billion.io  Product Page : https://3billion.io/gebra  User Manual :

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