Exomiser
DNAnalyzer
| Exomiser | DNAnalyzer | |
|---|---|---|
| 3 | 4 | |
| 181 | 123 | |
| 0.0% | - | |
| 8.9 | 8.1 | |
| 12 days ago | about 1 month ago | |
| Java | Java | |
| GNU Affero General Public License v3.0 | GNU General Public License v3.0 or later |
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
-
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.
-
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/
-
Is there a way to automatically classify variants as pathogenic?
VEP, Exomiser, Gemini, ...
DNAnalyzer
-
I'm approaching 1000 followers!
P.S. If you haven't checked out my latest project, DNAnalyzer, please do so! It's a groundbreaking open source tool that brings the power of machine learning to DNA analysis. You can find it on GitHub or read more about it here on dev.to. I would love to hear your feedback and suggestions on how to make it better and more useful for everyone.
-
Meet DNAI: A ML-Based Analysis of DNA
To download the new DNAnalyzer, please visit our GitHub repository: https://github.com/VerisimilitudeX/DNAnalyzer/releases
-
Open Source Repositories
@verisimilitude11 - DNAnalyzer
-
Hacktoberfest - DNAnalyzer
Repository: https://github.com/Verisimilitude11/DNAnalyzer
What are some alternatives?
go-feature-flag - GO Feature Flag is a simple, complete and lightweight self-hosted feature flag solution 100% Open Source. 🎛️
every-programmer-should-know - A collection of (mostly) technical things every software developer should know about
SonarJava - :coffee: SonarSource Static Analyzer for Java Code Quality and Security
developer-roadmap - Interactive roadmaps, guides and other educational content to help developers grow in their careers.
android-classyshark - Android and Java bytecode viewer
jvarkit - Java utilities for Bioinformatics
BioJava - :book::microscope::coffee: BioJava is an open-source project dedicated to providing a Java library for processing biological data.
rare-disease-wf - (WIP) best-practices workflow for rare disease