https://github.com/broadinstitute/gnomad-penetrance
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Science Score: 36.0%
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○CITATION.cff file
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Found 1 DOI reference(s) in README -
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Links to: biorxiv.org -
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Low similarity (1.9%) to scientific vocabulary
Repository
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Basic Info
- Host: GitHub
- Owner: broadinstitute
- License: bsd-3-clause
- Language: Python
- Default Branch: main
- Size: 5.86 KB
Statistics
- Stars: 0
- Watchers: 6
- Forks: 0
- Open Issues: 0
- Releases: 1
Metadata Files
README.md
gnomad-penetrance
This repository is associated with the study: Gudmundsson et al., medRxiv 2024: https://www.biorxiv.org/content/10.1101/2024.06.12.593113v1.full
ClinVarvariantsingnomADv4.py
Description: This script takes the gnomAD sites data (v4 exomes, v4 genomes) and filters to variants reported in ClinVar. Additional annotation is added on ClinVar clinical significance, gnomAD pext score, and whether the site is outside the capture/calling region of Broad/UKB exomes.
LoFvariantsingnomADv4.py
Description: This script takes the gnomAD sites data (v4 exomes, v4 genomes) and filters to specified genomic regions based on a bed file, followed by filtering to LoF variants on any transcript of a gene within those regions.
Owner
- Name: Broad Institute
- Login: broadinstitute
- Kind: organization
- Location: Cambridge, MA
- Website: http://www.broadinstitute.org/
- Twitter: broadinstitute
- Repositories: 1,083
- Profile: https://github.com/broadinstitute
Broad Institute of MIT and Harvard
GitHub Events
Total
- Release event: 1
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- Push event: 1
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Last Year
- Release event: 1
- Member event: 2
- Push event: 1
- Create event: 2