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

New burden curation, improved documentation and bug fixes #11

Merged
merged 5 commits into from
Sep 8, 2022

Conversation

ireneisdoomed
Copy link
Contributor

This PR closes #2701 and includes:

  • 16 evidence of association with fat distribution (PMID:35999217)
  • 56 evidence of associations with autism (PMID:35982159)
  • Improved documentation on the provenance and the curation process of the burden annotation.
  • Improved documentation structure.
  • Bug fix where all REGENERON evidence were missing the lower bound of the confidence interval.

56 new associations with autism from a meta analysis
16 new associations that report fat distribution
…ingVariants` for PMID:35999217

The number of carriers with the qualifying variant was updated. It now represents the addition of the cases where the mutation is present in at least one allele
…o REGENERLN evidence

The field `ConfidenceIntervalLower` in  REGENERON evidence was null for all lines. This was originated when dumping the evidence into the curation table. I've identified and fixed it by joining the associations in the table with an older dataset that contained the lower bounds.
Copy link
Contributor

@DSuveges DSuveges left a comment

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Great improvements in the documentation

@DSuveges DSuveges merged commit 412f207 into master Sep 8, 2022
@ireneisdoomed ireneisdoomed deleted the il-2701 branch September 8, 2022 13:40
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
2 participants