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Version: 0.0.2.0 (latest)

Submission System Guide

The PEG Data Registry is available at kpndataregistry.org/peg.

Before You Begin​

Before starting your submission, prepare the three required files and ensure your study meets the following requirements:

Study scope

  • One PEG study covers one trait and one GWAS source.
  • If your study spans multiple traits or GWAS sources, please split into separate submissions.

Submission files — see individual preparation guides for details:

Step 1: Create an Account​

Go to the PEG Data Registry.

  1. The welcome panel summarises the files you need before submitting.
  2. If you already have an account, enter your credentials and click Sign In.
  3. If you are new, click Create one at the bottom to register.

On the Create a PEG account page:

  1. Enter your email address.
  2. Choose a password and confirm it.
  3. Click Create account.
  1. A confirmation message will appear showing your registered email address.
  2. Click Go to sign in to proceed to the login page.

Step 2: Sign In​

  1. Enter your email and password.
  2. Click Sign In.

Step 3: Start a New Study​

The PEG Studies dashboard lists all your submissions.

  1. Click Create New Study in the top-right corner.
  2. Alternatively, click Create Your First Study if this is your first submission.

Review the Before You Begin checklist.

  1. Confirm your study covers one trait and one GWAS source.
  2. Confirm you have all three files ready. If you are unsure about the expected format or content of each file, see the file preparation guides.
  3. Click Continue to Metadata when ready.

Step 4: Enter Study Metadata​

Study Information & Phenotype​

  1. Study Name — the title of your manuscript, paper, or study (e.g., Aragam2021_CAD).
  2. Study Author — the first author's name or the submitter's name.
  3. Phenotype — a MONDO ID is preferred; free-text is also accepted (see below).
  4. Select the PEG Source publication status (Published / Pre-published / Unpublished).
  5. Select the GWAS Source from the available options.

Phenotype Input​

The phenotype field supports two input modes:

  1. MONDO ID (preferred) — type a MONDO identifier (e.g., MONDO:0005267). Using a standardised ontology term enables your data to be linked with ClinGen and other clinical resources.
  2. Free-text search — type a trait name and select a term from the dropdown list. A free-text entry is also accepted if no suitable term is available.

PEG Source​

The PEG source is the primary source — the publication or manuscript that reports your PEG data.

Select the publication status and provide the corresponding identifier:

  1. Published — enter the PubMed ID (PMID) of the published paper.
  2. Pre-published — enter the DOI of the pre-print.
  3. Unpublished — enter a manuscript title or brief description.

GWAS Source​

The GWAS source is the GWAS dataset that drove your PEG analysis. Use the highest-priority option that applies.

Preferred (use the first that applies):

  1. GWAS Catalog ID — enter the GCST accession (e.g., GCST90010729), available at ebi.ac.uk/gwas. This is the preferred option as it enables cross-resource discoverability.
  2. Knowledge Portal — enter the dataset ID if the GWAS data is hosted in the Knowledge Portal.
  3. Same as PEG source — select this if the GWAS summary statistics are from the same publication as the PEG data.

If none of the above are available:

  1. Published (PMID) — enter the PubMed ID of the paper containing the GWAS data.
  2. Pre-published (DOI) — enter the DOI of the pre-print.
  3. Unpublished — enter a brief description of the GWAS data source.

Step 5: Upload Files​

Upload all three required files in PEGASUS format:

  1. Click Choose PEG List File and select your TSV file.
  2. Click Choose PEG Metadata File and select your XLSX file.
  3. Click Choose PEG Matrix File and select your TSV file.
  1. Once all files are selected, their names and sizes will appear below each upload button.
  2. Click Submit Study to complete the submission.

Step 6: View Your Submission​

  1. After submission, your study appears in the PEG Studies dashboard with a unique accession ID (e.g., PEGSt00004).
  2. The table shows the Study Name, Accession ID, Author, Phenotype, and creation date.
  3. Click the study name to view the full submission details.
  1. The Study Information panel shows the study name, accession ID, author, and submission date.
  2. The Uploaded Files table lists each file with its name, upload timestamp, and size.
  3. Click the download icon next to any file to retrieve it.