https://github.com/clinical-genomics/reference-files
Small reference files
Science Score: 26.0%
This score indicates how likely this project is to be science-related based on various indicators:
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○CITATION.cff file
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✓codemeta.json file
Found codemeta.json file -
✓.zenodo.json file
Found .zenodo.json file -
○DOI references
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○Academic publication links
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○Committers with academic emails
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○Institutional organization owner
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○JOSS paper metadata
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○Scientific vocabulary similarity
Low similarity (3.1%) to scientific vocabulary
Keywords from Contributors
Repository
Small reference files
Basic Info
- Host: GitHub
- Owner: Clinical-Genomics
- Language: Lua
- Default Branch: master
- Size: 355 MB
Statistics
- Stars: 5
- Watchers: 6
- Forks: 2
- Open Issues: 6
- Releases: 0
Metadata Files
README.md
reference-files
Small reference files
This repository is for storing small custom reference files created locally.
rare-disease
annotation
VCFanno config, lua and specifically converted files (malformated CADD).
disease_loci
Definition files for callers, currently extensions to ExpansionHunter, mirrored and archived from our Stranger resource variant catalogs.
frequency
Frequency type small references. Currently GenBank haplogroups.
gene_panel
Manual edits and archive exports to gene panel realated files, bed and tsv.
rank_model
Genmod model files, divided into SV and SNV/indel type of variants. See Genmod documentation.
region
Region type small reference files, mostly BED. vcf2cytosure difficult region exclusion files, cytoband definitions, repeat element locations, manta call regions.
cancer
Somalier
Somalier sites files mirrored from v0.2.16
nallo
See Nallo README.
Owner
- Name: Clinical Genomics
- Login: Clinical-Genomics
- Kind: organization
- Location: Stockholm, Sweden
- Website: https://clinical-genomics.github.io
- Repositories: 67
- Profile: https://github.com/Clinical-Genomics
GitHub Events
Total
- Issues event: 17
- Delete event: 11
- Issue comment event: 27
- Push event: 34
- Pull request review comment event: 13
- Pull request event: 24
- Pull request review event: 22
- Create event: 12
Last Year
- Issues event: 17
- Delete event: 11
- Issue comment event: 27
- Push event: 34
- Pull request review comment event: 13
- Pull request event: 24
- Pull request review event: 22
- Create event: 12
Committers
Last synced: about 1 year ago
Top Committers
| Name | Commits | |
|---|---|---|
| Daniel Nilsson | d****n@g****m | 91 |
| jemten | j****n | 70 |
| Henrik Stranneheim | h****m@s****e | 28 |
| Ramprasad Neethiraj | 2****n | 7 |
| Felix Lenner | 5****1 | 5 |
| khurrammaqbool | k****l@o****m | 4 |
| Eva C | 2****c | 3 |
| ashwini06 | a****i@s****e | 2 |
| Hassan Foroughi | h****a | 1 |
| Jesper Eisfeldt | J****r@K****l | 1 |
Committer Domains (Top 20 + Academic)
Issues and Pull Requests
Last synced: 11 months ago
All Time
- Total issues: 26
- Total pull requests: 94
- Average time to close issues: 4 months
- Average time to close pull requests: 11 days
- Total issue authors: 7
- Total pull request authors: 9
- Average comments per issue: 1.23
- Average comments per pull request: 0.91
- Merged pull requests: 89
- Bot issues: 0
- Bot pull requests: 0
Past Year
- Issues: 14
- Pull requests: 29
- Average time to close issues: 15 days
- Average time to close pull requests: 7 days
- Issue authors: 4
- Pull request authors: 4
- Average comments per issue: 1.0
- Average comments per pull request: 1.21
- Merged pull requests: 24
- Bot issues: 0
- Bot pull requests: 0
Top Authors
Issue Authors
- dnil (14)
- fellen31 (6)
- rannick (1)
- 47KW (1)
- ehre (1)
- J35P312 (1)
- hassanfa (1)
Pull Request Authors
- jemten (32)
- dnil (30)
- henrikstranneheim (11)
- ramprasadn (11)
- fellen31 (10)
- khurrammaqbool (4)
- J35P312 (1)
- hassanfa (1)
- fevac (1)