variant-annotation | Topic | Ecosyste.ms: Repos

Topic: "variant-annotation"

KarchinLab/open-cravat

A modular annotation tool for genomic variants

Language: JavaScript - Size: 9.28 MB - Last synced at: 10 days ago - Pushed at: 10 days ago - Stars: 125 - Forks: 34

nf-core/raredisease

Call and score variants from WGS/WES of rare disease patients.

Language: Nextflow - Size: 187 MB - Last synced at: 21 days ago - Pushed at: 21 days ago - Stars: 103 - Forks: 46

charite/jannovar

Annotation of VCF variants with functional impact and from databases (executable+library)

Language: Java - Size: 23.7 MB - Last synced at: 21 days ago - Pushed at: 21 days ago - Stars: 59 - Forks: 35

everestial/VCF-Simplify

A python parser to simplify and build the VCF (Variant Call Format).

Language: Python - Size: 19.9 MB - Last synced at: 9 months ago - Pushed at: 9 months ago - Stars: 47 - Forks: 11

OpenOmics/genome-seek

Clinical Whole Genome and Exome Sequencing Pipeline

Language: Python - Size: 952 KB - Last synced at: 6 days ago - Pushed at: 6 days ago - Stars: 23 - Forks: 10

RajLabMSSM/echolocatoR

Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.

Language: R - Size: 397 MB - Last synced at: over 2 years ago - Pushed at: over 2 years ago - Stars: 19 - Forks: 11

robertopreste/HmtNote 📦

Human mitochondrial variants annotation using HmtVar.

Language: Python - Size: 452 KB - Last synced at: about 1 month ago - Pushed at: almost 2 years ago - Stars: 18 - Forks: 1

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 at: almost 2 years ago - Pushed at: almost 2 years ago - Stars: 18 - Forks: 5

bioforensics/rsidx

Library for indexing VCF files for random access searches by rsID

Language: Python - Size: 116 KB - Last synced at: 6 days ago - Pushed at: 6 days ago - Stars: 17 - Forks: 4

nf-core/tumourevo

Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)

Language: Nextflow - Size: 2.51 MB - Last synced at: 20 days ago - Pushed at: 20 days ago - Stars: 17 - Forks: 5

taylor-lab/annotateMaf

Add functional variant annotation to MAF file

Language: R - Size: 268 KB - Last synced at: 8 months ago - Pushed at: 8 months ago - Stars: 11 - Forks: 2

DKFZ-ODCF/SNVCallingWorkflow

The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow

Language: Python - Size: 738 KB - Last synced at: 6 months ago - Pushed at: about 1 year ago - Stars: 9 - Forks: 4

bpucker/NAVIP

Neighborhood-Aware Variant Impact Predictor

Language: Python - Size: 332 KB - Last synced at: 2 months ago - Pushed at: 5 months ago - Stars: 8 - Forks: 1

geniusphil/2019GenomicsEpidemiologyWorkshop

2019 Genomics Epidemiology Workshop at Academia Sinica

Language: Perl - Size: 51.8 MB - Last synced at: over 2 years ago - Pushed at: almost 6 years ago - Stars: 7 - Forks: 3

Integrative-Transcriptomics/MUSIAL

Summarize SNV and indel information on single gene or genome level together with other relevant statistics based on .vcf files.

Language: Java - Size: 317 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 5 - Forks: 1

CERC-Genomic-Medicine/vep_pipeline

Pipeline for variant annotation using Variant Effect Predictor (VEP)

Language: Jupyter Notebook - Size: 581 KB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 4 - Forks: 1

iossifovlab/gpf

GPF: Genotypes and Phenotypes in Families

Language: Python - Size: 132 MB - Last synced at: about 10 hours ago - Pushed at: about 12 hours ago - Stars: 3 - Forks: 0

matmu/Qtlizer

Language: R - Size: 157 KB - Last synced at: 4 months ago - Pushed at: 5 months ago - Stars: 3 - Forks: 1

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 at: over 2 years ago - Pushed at: over 2 years ago - Stars: 2 - Forks: 0

SevcanDogramaci/AnGenoV

A tool for analysis of genomic variants in human genomes.

Language: JavaScript - Size: 14.4 MB - Last synced at: over 1 year ago - Pushed at: almost 4 years ago - Stars: 2 - Forks: 1

vinodscaria/COVID19variants

COVID-19 Variants Repository

Size: 6.64 MB - Last synced at: over 2 years ago - Pushed at: over 4 years ago - Stars: 2 - Forks: 1

Melakutad/nexus-cli

Nexus CLI is a powerful tool for contributing proofs to the Nexus network. Join our distributed prover network today! 🚀💻

Language: Rust - Size: 1.63 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 0 - Forks: 0

IBCHgenomic/genovaranno

Variant annotation human genomics

Language: Rust - Size: 145 KB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 0 - Forks: 0

GiatrasKon/Chromosome11-VariantCalling-GATK

A streamlined pipeline for germline variant calling on chromosome 11 using GATK. This repository includes workflows for data preprocessing, variant discovery, and annotation, with a focus on understanding genetic variations linked to disease-associated genes.

Language: R - Size: 10.2 MB - Last synced at: 30 days ago - Pushed at: 8 months ago - Stars: 0 - Forks: 1

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