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The Top 23 Variant Annotations Open Source Projects

Open source projects categorized as Variant Annotations
Categories > Variant Annotations
Viral Ngs ⭐ 129
Viral genomics analysis pipelines
most recent commit 4 years ago
Echtvar ⭐ 124
using all the bits for echt rapid variant annotation and filtering
most recent commit 9 months ago
Open Cravat ⭐ 98
A modular annotation tool for genomic variants
most recent commit 8 months ago
Myvariant.info ⭐ 84
MyVariant.info: A BioThings API for human variant annotations
most recent commit 6 months ago
Raredisease ⭐ 64
Call and score variants from WGS/WES of rare disease patients.
most recent commit 5 months ago
Jannovar ⭐ 51
Annotation of VCF variants with functional impact and from databases (executable+library)
dependent packages 5total releases 27most recent commit 6 months ago
Vcf Simplify ⭐ 45
A python parser to simplify and build the VCF (Variant Call Format).
most recent commit 4 years ago
Gvanno ⭐ 43
Generic human DNA variant annotation pipeline
most recent commit 6 months ago
Orchid ⭐ 29
A novel management, annotation, and machine learning framework for analyzing cancer mutations
most recent commit a year ago
Vcf2tsvpy ⭐ 27
Genomic VCF to tab-separated values
most recent commit a year ago
Echolocator ⭐ 20
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
most recent commit a year ago
Phenomenet Vp ⭐ 17
A phenotype-based tool for variant prioritization in WES and WGS data
most recent commit 4 years ago
Bedanno ⭐ 17
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
most recent commit 2 years ago
Hmtnote ⭐ 15
Human mitochondrial variants annotation using HmtVar.
most recent commit 8 months ago
Cadd Sv ⭐ 12
CADD-SV – a framework to score the effect of structural variants
most recent commit 8 months ago
Genome Seek ⭐ 12
Clinical Whole Genome Sequencing Pipeline
most recent commit 7 months ago
Rsidx ⭐ 12
Library for indexing VCF files for random access searches by rsID
most recent commit a year ago
Annotatemaf ⭐ 7
Add functional variant annotation to MAF file
most recent commit 2 years ago
Snvcallingworkflow ⭐ 7
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
most recent commit a year ago
2019genomicsepidemiologyworkshop ⭐ 6
2019 Genomics Epidemiology Workshop at Academia Sinica
most recent commit 5 years ago
Renovo ⭐ 6
Clinical machine-learning based interpreter of germline mutations.
most recent commit 2 years ago
Metadome ⭐ 5
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.
most recent commit 2 years ago
Plot Vcf ⭐ 5
visual analysis of your VCF files
most recent commit 2 years ago
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