For the complete documentation index, see llms.txt. This page is also available as Markdown.

The printed report

The released report is an A4 document assembled from the report's template, your organization's report branding and the case data. Preview on the Report tab shows the same document at any phase; the PDF and HTML downloads are the version frozen at release.

Layout

The report prints in this order:

  1. Letterhead: your logo and organization name, the address, and the report title. Beneath them, the Case ID, Analysis Type, Report Date, CLIA ID, and Accreditation. A missing value prints as a dash.

  2. The template's sections, in the template's order, each under a ruled heading. For the standard template:

    • Patient, Specimen & Provider Information: a Patient column (proband ID, sex, affected status) and, where recorded, a Family column (family ID, paternal ID, maternal ID).

    • Clinical Phenotypes: the sample's HPO terms, each with its ID and label.

    • Findings tables: one table per findings section, with the columns Gene(s), Variant, Type, Classification, and Interpretation. Rows classified as Pathogenic (not Likely pathogenic) are highlighted.

    • Clinical Interpretation, Recommendations, Methods (including the workflow, run ID, and number of variants reported), Limitations, References, and any statements your lab added.

  3. Report Sign-Off: the signer's role and name, the date signed, any amendment reason, the disclaimer, and the version (Version 1, or Amendment 2 and later).

Every page has a footer with "Confidential", your footer text and, if enabled, the page number. From page 2 onward, the report title and case ID repeat at the top of the page.

Sections you've turned off in the template aren't printed. The Clinical Phenotypes section is left out when the case has no phenotype terms, and a findings section you added is left out when nothing is filed under it.

Download formats

Format
Use it for

PDF

The signed report to share or file.

HTML

Viewing the report in a browser or embedding it in another system.

JSON

Machine-readable report content (sections, findings, and branding) for integration with other systems.

All three are produced at release from the same frozen document, so their content matches.

The report's Methods section records the workflow and run ID of the analysis that produced it. The reference genome and caller versions aren't printed on the report; find them in the sample drawer. See Pipeline & caller versions.

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