nf-core/raredisease

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

Language: Nextflow - Size: 11 MB - Last synced: 1 day ago - Pushed: 1 day ago - Stars: 72 - Forks: 33

KarchinLab/open-cravat

A modular annotation tool for genomic variants

Language: JavaScript - Size: 8.27 MB - Last synced: about 24 hours ago - Pushed: 1 day ago - Stars: 106 - Forks: 26

charite/jannovar

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

Language: Java - Size: 23.6 MB - Last synced: 5 days ago - Pushed: 5 days ago - Stars: 54 - Forks: 38

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: 8 days ago - Pushed: 9 days ago - Stars: 0 - Forks: 2

iossifovlab/gpf

GPF: Genotypes and Phenotypes in Families

Language: Python - Size: 75.3 MB - Last synced: 15 days ago - Pushed: 15 days ago - Stars: 1 - Forks: 0

robertopreste/HmtNote 📦

Human mitochondrial variants annotation using HmtVar.

Language: Python - Size: 452 KB - Last synced: 11 days ago - Pushed: 6 months ago - Stars: 16 - Forks: 1

OpenOmics/genome-seek

Clinical Whole Genome and Exome Sequencing Pipeline

Language: Python - Size: 890 KB - Last synced: 22 days ago - Pushed: 22 days ago - Stars: 14 - Forks: 7

anand-imcm/pb-variant-call

Variant Calling and Annotation using PacBio Hi-Fi Reads

Language: WDL - Size: 59.6 KB - Last synced: 4 months ago - Pushed: 4 months ago - Stars: 0 - Forks: 0

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

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: 6 months ago - Pushed: 9 months ago - Stars: 18 - Forks: 5

genepattern/OpenCRAVAT

OpenCRAVAT as a GenePattern module

Language: Python - Size: 953 KB - Last synced: 6 months ago - Pushed: almost 4 years ago - Stars: 0 - Forks: 0

bioforensics/rsidx

Library for indexing VCF files for random access searches by rsID

Language: Python - Size: 108 KB - Last synced: 6 months ago - Pushed: 9 months ago - Stars: 12 - Forks: 2

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: about 1 year ago - Stars: 1 - Forks: 1

genome-nexus/genome-nexus-cli

💻 Command line interface for Genome Nexus 🧬

Language: TypeScript - Size: 437 KB - Last synced: 11 days ago - Pushed: 12 months ago - Stars: 0 - Forks: 5

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

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

matmu/Qtlizer

Language: R - Size: 152 KB - Last synced: 4 months ago - Pushed: about 2 years ago - Stars: 3 - Forks: 1

DKFZ-ODCF/SNVCallingWorkflow

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

Language: Python - Size: 925 KB - Last synced: 6 months ago - Pushed: 10 months ago - Stars: 7 - Forks: 4

SevcanDogramaci/AnGenoV

A tool for analysis of genomic variants in human genomes.

Language: JavaScript - Size: 14.4 MB - Last synced: 7 days ago - Pushed: over 2 years ago - Stars: 2 - Forks: 1

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

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

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

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

tfrayner/vcf_walker

VCF annotation utilities

Language: Python - Size: 78.1 KB - Last synced: 12 months ago - Pushed: over 5 years ago - Stars: 0 - Forks: 0