Ecosyste.ms: Repos
An open API service providing repository metadata for many open source software ecosystems.
GitHub topics: variant-annotation
charite/jannovar
Annotation of VCF variants with functional impact and from databases (executable+library)
Language: Java - Size: 23.6 MB - Last synced: 3 days ago - Pushed: 4 days ago - Stars: 54 - Forks: 37
nf-core/raredisease
Call and score variants from WGS/WES of rare disease patients.
Language: Nextflow - Size: 11.1 MB - Last synced: about 19 hours ago - Pushed: about 20 hours ago - Stars: 72 - Forks: 33
KarchinLab/open-cravat
A modular annotation tool for genomic variants
Language: JavaScript - Size: 8.78 MB - Last synced: about 13 hours ago - Pushed: about 14 hours ago - Stars: 106 - Forks: 26
everestial/VCF-Simplify
A python parser to simplify and build the VCF (Variant Call Format).
Language: Python - Size: 19.9 MB - Last synced: about 1 year ago - Pushed: over 3 years ago - Stars: 43 - Forks: 12
RajLabMSSM/echolocatoR
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
Language: R - Size: 397 MB - Last synced: about 1 year ago - Pushed: over 1 year ago - Stars: 19 - Forks: 11
OpenOmics/genome-seek
Clinical Whole Genome and Exome Sequencing Pipeline
Language: Python - Size: 919 KB - Last synced: 2 days ago - Pushed: 3 days ago - Stars: 16 - Forks: 7
ltnetcase/BedAnno
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
Language: Perl - Size: 2.79 MB - Last synced: 7 months ago - Pushed: 9 months ago - Stars: 18 - Forks: 5
genome-nexus/genome-nexus-cli
💻 Command line interface for Genome Nexus 🧬
Language: TypeScript - Size: 437 KB - Last synced: 7 days ago - Pushed: about 1 year ago - Stars: 0 - Forks: 5
DKFZ-ODCF/SNVCallingWorkflow
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
Language: Python - Size: 925 KB - Last synced: 7 months ago - Pushed: 11 months ago - Stars: 7 - Forks: 4
geniusphil/2019GenomicsEpidemiologyWorkshop
2019 Genomics Epidemiology Workshop at Academia Sinica
Language: Perl - Size: 51.8 MB - Last synced: about 1 year ago - Pushed: over 4 years ago - Stars: 7 - Forks: 3
taylor-lab/annotateMaf
Add functional variant annotation to MAF file
Language: R - Size: 254 KB - Last synced: about 1 year ago - Pushed: over 2 years ago - Stars: 7 - Forks: 2
caravagnalab/nf-core-evoverse
Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)
Size: 280 KB - Last synced: 21 days ago - Pushed: 22 days ago - Stars: 0 - Forks: 2
bioforensics/rsidx
Library for indexing VCF files for random access searches by rsID
Language: Python - Size: 108 KB - Last synced: 7 months ago - Pushed: 9 months ago - Stars: 12 - Forks: 2
SevcanDogramaci/AnGenoV
A tool for analysis of genomic variants in human genomes.
Language: JavaScript - Size: 14.4 MB - Last synced: 20 days ago - Pushed: over 2 years ago - Stars: 2 - Forks: 1
bpucker/NAVIP
Neighborhood-Aware Variant Impact Predictor
Language: Python - Size: 179 KB - Last synced: 3 months ago - Pushed: 3 months ago - Stars: 3 - Forks: 1
vinodscaria/COVID19variants
COVID-19 Variants Repository
Size: 6.64 MB - Last synced: about 1 year ago - Pushed: over 3 years ago - Stars: 2 - Forks: 1
matmu/Qtlizer
Language: R - Size: 152 KB - Last synced: 5 months ago - Pushed: about 2 years ago - Stars: 3 - Forks: 1
robertopreste/HmtNote 📦
Human mitochondrial variants annotation using HmtVar.
Language: Python - Size: 452 KB - Last synced: 23 days ago - Pushed: 7 months ago - Stars: 16 - Forks: 1
CERC-Genomic-Medicine/vep_pipeline
Pipeline for variant annotation using Variant Effect Predictor (VEP)
Language: Jupyter Notebook - Size: 554 KB - Last synced: 6 months ago - Pushed: over 1 year ago - Stars: 1 - Forks: 1
anand-imcm/pb-variant-call
Variant Calling and Annotation using PacBio Hi-Fi Reads
Language: WDL - Size: 59.6 KB - Last synced: 5 months ago - Pushed: 5 months ago - Stars: 0 - Forks: 0
genepattern/OpenCRAVAT
OpenCRAVAT as a GenePattern module
Language: Python - Size: 953 KB - Last synced: 7 months ago - Pushed: almost 4 years ago - Stars: 0 - Forks: 0
tfrayner/vcf_walker
VCF annotation utilities
Language: Python - Size: 78.1 KB - Last synced: about 1 year ago - Pushed: over 5 years ago - Stars: 0 - Forks: 0
a-thind/IBDVar
A tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
Language: Shell - Size: 4.79 MB - Last synced: about 1 year ago - Pushed: over 1 year ago - Stars: 2 - Forks: 0
kopalgarg/gnomAD_gene_model
shiny web-app
Language: R - Size: 233 KB - Last synced: about 1 year ago - Pushed: almost 3 years ago - Stars: 0 - Forks: 0
iossifovlab/gpf
GPF: Genotypes and Phenotypes in Families
Language: Python - Size: 75.3 MB - Last synced: 27 days ago - Pushed: 28 days ago - Stars: 1 - Forks: 0
