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Variant page

Navigate between variants using the left and right arrow keys on your keyboard, or click the arrows on either side of the Variant page.

The Variant page showcasing the comprehensive variant information is accessible from the Variant table by selecting the corresponding variant row with a click.

Navigate between variants using the left and right arrow keys on your keyboard, or click the arrows on either side of the Variant page.​

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The Variant page is comprised of:

  1. . Displays Case ID, gene symbol, genomic DNA-level description of the variant, variant , and a link to your database. If the variant is already in your Curate database, you will see an Open Curate button. Otherwise, you will see an Export to Curate button.

  2. Navigation panel (left).

  3. Page body:

    1. . Highlights core variant-related information from other tabs

    2. . Reports essential variant- and gene-level information and indicates gene-related diseases.

  4. Expandable (right). Records variant-level user activities, such as a variant, adding comments or evidence notes, or editing the evidence graph. Variant activity panel pops up upon clicking the Activities button.

. Outlines the major variant quality parameters in each sample and demonstrates the family tree with the zygosity for each sequenced sample.
  • . Features the IGV-based BAM file viewer.

  • ​. Addresses alternative allele frequency, alternative allele count, and the number of homozygotes in public and internal databases.

  • ​. Highlights connections between the examined variant and other variants in the case.

  • . Displays statistics regarding the pathogenicity and tags assigned to the variant under review, incorporating data from previous cases within both your organization and .

  • . Highlights user-selected variant pathogenicity, ACMG class (for a or a variant), and interpretation notes.

  • Top bar
    tags
    Curate
    Summary tab
    Clinical Significance tab
    Variant activity panel
    tagging
    Quality tab
    Visualization tab
    Related Cases tab
    networks
    Evidence tab
    sequence
    genomic
    Population Statistics tabarrow-up-right
    Connected variants tabarrow-up-right