Exomiser
SonarJava
| Exomiser | SonarJava | |
|---|---|---|
| 3 | - | |
| 181 | 1,088 | |
| 0.0% | 0.5% | |
| 8.9 | 9.6 | |
| 12 days ago | 6 days ago | |
| Java | Java | |
| GNU Affero General Public License v3.0 | GNU Lesser General Public License v3.0 only |
Stars - the number of stars that a project has on GitHub. Growth - month over month growth in stars.
Activity is a relative number indicating how actively a project is being developed. Recent commits have higher weight than older ones.
For example, an activity of 9.0 indicates that a project is amongst the top 10% of the most actively developed projects that we are tracking.
Exomiser
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I'm looking for a program to identify disease causing variants in a VCF file
That is not a trivial problem, even when you find a variant that could be causing the phenotype, a lot of evidence and expertise is required to validate that. There is not a single program or platform that can do that for you. But if you want to explore your data, there are VEP and Exomiser tools, but be aware those are not diagnostic tools.
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How to analyze your own raw genetic data for rare diseases/pathogenic markers/worst genes
Enter the Exomiser, an open source cross platform program to analyze your VCF file: https://github.com/exomiser/Exomiser The latest release as of this post is 12.1.0 and can be downloaded here: https://github.com/exomiser/Exomiser/releases/download/12.1.0/exomiser-cli-12.1.0-distribution.zip You also need to download the additional data here except for the hg19.zip: https://data.monarchinitiative.org/exomiser/latest/
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Is there a way to automatically classify variants as pathogenic?
VEP, Exomiser, Gemini, ...
SonarJava
We haven't tracked posts mentioning SonarJava yet.
Tracking mentions began in Dec 2020.
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