Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Update data #136

Merged
merged 6 commits into from
Jan 13, 2025
Merged

Update data #136

merged 6 commits into from
Jan 13, 2025

Conversation

github-actions[bot]
Copy link
Contributor

@github-actions github-actions bot commented Jan 2, 2025

Automated changes by create-pull-request GitHub action

Description

This PR introduces changes from automated literature retrieval followed by manual curation.

Fixes: # Link to any relevant issues and/or discussions

Major Changes

  • CNBP_DM2: Add pathogenic motif TCTG [@pmid:39703464]

Minor Changes

  • ATXN3_SCA3: the APOE ε4 allele appears to act as a modifier in SCA3 [@pmid:39731318]
  • GLS_GDPAG: GLS repeats may function as modifiers for SCA3/ataxia [@pmid: 39699045]
  • C9orf72_FTDALS: Largest repeat detected: 4,088 repeats; methylation appears to increase with expansion length and age [@pmid:39709476].
  • DMPK_DM1: Add motif GCGGCA, which interrupts GCA repeats [@doi:10.1016/j.mcp.2024.102005]
  • DMPK_DM1: ZNF850 expansions may function as DM1 modifiers [@doi:10.1093/hmg/ddae186]
  • TCF4_FECD3: Update global prevalence information [@pmid:39669694]

Checklist

  • Check I've included all literature since the last "Literature Update" PR (may need to diff against an earlier version)
  • Check for updates to existing loci
  • Check for potential new loci
  • Add any changes to STRchive-loci.json as commits to this branch/PR
  • If anything needs to be discussed further before adding to STRchive, add it to Discussions
  • Check all tests pass e.g. the website built
  • Check that the website preview looks good
  • Update the STRchive version in CITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X.
  • Ask someone to review this PR

Copy link

netlify bot commented Jan 2, 2025

Deploy Preview for strchive ready!

Name Link
🔨 Latest commit 58a3ab0
🔍 Latest deploy log https://app.netlify.com/sites/strchive/deploys/67854c3438d4ab0008752045
😎 Deploy Preview https://deploy-preview-136--strchive.netlify.app
📱 Preview on mobile
Toggle QR Code...

QR Code

Use your smartphone camera to open QR code link.

To edit notification comments on pull requests, go to your Netlify site configuration.

@laurelhiatt
Copy link
Contributor

Based on review of new lit from past ~month, here are the STRchive additions I would suggest @hdashnow :

  • ATXN3_SCA3: the APOE ε4 allele appears to act as a modifier in SCA3 [@pmid:39731318]
  • GLS_GDPAG: GLS repeats may function as modifiers for SCA3/ataxia [@pmid: 39699045]
  • C9orf72_FTDALS: Largest repeat detected: 4,088 repeats; methylation appears to increase with expansion length and age [@pmid:39709476].
  • CNBP_DM2: Add pathogenic motif TCTG [@pmid:39703464]
  • DMPK_DM1: Add motif GCGGCA, which interrupts GCA repeats [@doi:10.1016/j.mcp.2024.102005]
  • DMPK_DM1: ZNF850 expansions may function as DM1 modifiers [@doi:10.1093/hmg/ddae186]
  • TCF4_FECD3: Update global prevalence information [@pmid:39669694]

data/STRchive-loci.json Show resolved Hide resolved
data/STRchive-loci.json Outdated Show resolved Hide resolved
@hdashnow hdashnow merged commit 5f5e9c1 into main Jan 13, 2025
2 checks passed
@hdashnow hdashnow deleted the update-data branch January 13, 2025 17:27
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

2 participants