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Get started with Emedgene

Welcome to Emedgene, where we unlock genomic insights for hereditary disease and streamline your tertiary analysis workflows.

So you've signed in and can't wait to get started? Here we will guide you through the platform architecture, case creation, and results review. You can dive a bit deeper by following the links and exploring manuals for the platform's applications:

  • Analyze—Genomic analysis workbench, where you can accession, interpret, curate and report on your cases, while also efficiently managing the lab workflow

  • Curate—A repository for all of your organizational curated knowledge

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Look around

The platform is operated from the .

By clicking on the corresponding buttons, you can enter:

  • tab

  • page

  • menu

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Create a case

To enter the flow, click on the namesake button on the . Here:

1

Select file type

2

Upload files

3

Create a family tree

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Your case status will be In progress. You'll be notified when results are ready and the case is in status Delivered.

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Examine the analysis results

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Select a case to review on the tab. You'll be directed to the that:

  • Showcases an AI-curated shortlist of variants suggested to be checked first, namely and

  • Provides numerous customizable to help you by yourself

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  • dropdown menu

  • 4

    Annotate each sample with clinical information

    5

    Specify analysis details

    6

    Launch the analysis!

    Documents all the case-related information like , , and used during case analysis

    2

    Investigate the evidence on the and assign appropriate to the variants of interest.

    3

    When you're ready to , indicate the end result of the analysis and variants to be reported in the Case interpretation widget.

    top navigation panel
    Cases
    Add new case
    Emedgene applications
    Add new case
    top navigation panel
    Cases
    Individual case page
    Most Likely Candidates
    Candidates
    filtersarrow-up-right
    explore the total list of genetic variants
    Help
    Settings
    Case status
    sample quality metrics
    versions of all the resources
    Variant page
    tags
    finalize the case