GitHub topics: variant-annotations
IBCHgenomic/eVaiutilities
eVaiutilities for eVaianalyzer-human genomics
Language: Rust - Size: 84.1 MB - Last synced at: about 21 hours ago - Pushed at: about 21 hours ago - Stars: 0 - Forks: 0
laurensvdwiel/metadome
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.
Language: Python - Size: 2.46 MB - Last synced at: 4 days ago - Pushed at: 5 days ago - Stars: 9 - Forks: 2
KarchinLab/open-cravat
A modular annotation tool for genomic variants
Language: JavaScript - Size: 9.24 MB - Last synced at: 8 days ago - Pushed at: 9 days ago - Stars: 120 - Forks: 33
biothings/myvariant.info
MyVariant.info: A BioThings API for human variant annotations
Language: Python - Size: 12.9 MB - Last synced at: 28 days ago - Pushed at: 28 days ago - Stars: 93 - Forks: 32
brentp/echtvar
using all the bits for echt rapid variant annotation and filtering
Language: Rust - Size: 214 KB - Last synced at: about 1 month ago - Pushed at: about 2 months ago - Stars: 151 - Forks: 10
pstawinski/pygenebe
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
Language: Python - Size: 2.94 MB - Last synced at: about 2 months ago - Pushed at: about 2 months ago - Stars: 6 - Forks: 0
kircherlab/CADD-SV
CADD-SV – a framework to score the effect of structural variants
Language: Python - Size: 23.4 MB - Last synced at: about 2 months ago - Pushed at: about 2 months ago - Stars: 14 - Forks: 4
mazzalab-ieo/renovo
Clinical machine-learning based interpreter of germline mutations.
Language: Python - Size: 7.12 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 11 - Forks: 5
biocoderdev/weap
WEAP: An automatic and accelerated pipeline for analysing multi-sample whole exome sequencing data
Language: Shell - Size: 2.64 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 0 - Forks: 0
solida-core/diva
DiVA (DNA Variant Analysis) is a pipeline for Next-Generation Sequencing Exome data anlysis
Language: Python - Size: 508 KB - Last synced at: about 1 month ago - Pushed at: almost 3 years ago - Stars: 1 - Forks: 6
broadinstitute/viral-ngs
Viral genomics analysis pipelines
Language: Python - Size: 64.5 MB - Last synced at: about 2 months ago - Pushed at: 8 months ago - Stars: 192 - Forks: 68
CDCgov/NCHHSTP-DTBE-Varpipe-WGS
This repository contains an analysis pipeline developed to characterize WGS output
Language: HTML - Size: 1.29 GB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 7 - Forks: 5
seanlaidlaw/Metallaxis
A Python GUI VCF viewer for SNP, indels, and TE.
Language: Python - Size: 22.9 MB - Last synced at: about 1 month ago - Pushed at: almost 2 years ago - Stars: 8 - Forks: 5
auroramaurizio/WES_ESOCA
WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication
Language: Python - Size: 69.3 KB - Last synced at: 10 months ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0
Beth526/abstract_search_for_variant_annotation
neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC
Language: Python - Size: 35.2 MB - Last synced at: 10 months ago - Pushed at: about 4 years ago - Stars: 0 - Forks: 0
COMBAT-TB/tbvcfreport
Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)
Language: Python - Size: 1.34 MB - Last synced at: about 1 month ago - Pushed at: 11 months ago - Stars: 2 - Forks: 2
sigven/gvanno
Generic human DNA variant annotation pipeline
Language: Python - Size: 13.7 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 44 - Forks: 11
kevin-wamae/snakemake-illuminaVarGATK
A Snakemake workflow for variant calling using GATK4 best practices
Language: Python - Size: 46.5 MB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 2 - Forks: 2
cccnrc/plot-VCF
visual analysis of your VCF files
Language: R - Size: 75.9 MB - Last synced at: over 1 year ago - Pushed at: over 2 years ago - Stars: 12 - Forks: 2
kopalgarg/variantviewer
interactive variant tables for easy filtering
Language: R - Size: 2 MB - Last synced at: over 1 year ago - Pushed at: almost 4 years ago - Stars: 0 - Forks: 0
sigven/vcf2tsvpy
Genomic VCF to tab-separated values
Language: Python - Size: 59.6 KB - Last synced at: over 1 year ago - Pushed at: about 2 years ago - Stars: 41 - Forks: 11
Wittelab/orchid
A novel management, annotation, and machine learning framework for analyzing cancer mutations
Language: Jupyter Notebook - Size: 66.7 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 29 - Forks: 8
maxim-k/PyVep
Python wrapper and web-server for Ensembl VEP
Language: Python - Size: 84 KB - Last synced at: almost 2 years ago - Pushed at: about 8 years ago - Stars: 0 - Forks: 0
bio-ontology-research-group/phenomenet-vp
A phenotype-based tool for variant prioritization in WES and WGS data
Language: Java - Size: 6.53 MB - Last synced at: about 1 year ago - Pushed at: over 2 years ago - Stars: 34 - Forks: 13
adamd3/VarPredict
A command line tool for predicting gene expression using genotypic data
Language: Python - Size: 2.15 MB - Last synced at: almost 2 years ago - Pushed at: almost 2 years ago - Stars: 0 - Forks: 0
nickzren/atav-database
A relational database stores per sample based sequencing data.
Language: Python - Size: 18.7 MB - Last synced at: about 2 years ago - Pushed at: about 2 years ago - Stars: 2 - Forks: 1
cbrueffer/misc_bioinf
Repository for miscellaneous bioinformatics scripts that may be useful to others.
Language: Python - Size: 20.5 KB - Last synced at: about 2 months ago - Pushed at: over 8 years ago - Stars: 2 - Forks: 2
ziul-bio/Variant_Call_sars-cov-2
A chamada de variantes envolve a identificação de polimorfismos de nucleotídeo único (SNPs) e pequenas inserções e deleções (indels) em dados de Sequenciamento de Nova Geração (NGS). Nesta pipeline descrevo a detecção de SNP para identificação de possíveis alterações de aminoácidos em proteínas virais.
Language: Shell - Size: 1.13 MB - Last synced at: almost 2 years ago - Pushed at: over 3 years ago - Stars: 0 - Forks: 0
nmtrang00/Var_Annot_Eval
An empirical variant annotation and data evaluation pipeline.
Language: Python - Size: 43 KB - Last synced at: about 2 years ago - Pushed at: about 3 years ago - Stars: 3 - Forks: 1
CCBR/CCBR_GATK4_Exome_Seq_Pipeline Fork of mtandon09/CCBR_GATK4_Exome_Seq_Pipeline
Containerized GATK4 Whole Exome-sequencing Pipeline
Language: Python - Size: 10.2 MB - Last synced at: about 2 years ago - Pushed at: over 3 years ago - Stars: 1 - Forks: 0
BCCDC-PHL/vcf-melt
Customized vcf_melt script from pyvcf. Handles snpEff-annotated vcf files
Language: Python - Size: 23.4 KB - Last synced at: about 1 year ago - Pushed at: over 3 years ago - Stars: 0 - Forks: 0
ALAPY/AGx
Variant annotation and filtration server ALAPY Genome Explorer
Language: Shell - Size: 1020 KB - Last synced at: about 2 years ago - Pushed at: almost 8 years ago - Stars: 3 - Forks: 0
TelentiLab/Omni
This is a public repo to introduce Omni and collect issues and feedback.
Size: 2.47 MB - Last synced at: about 2 years ago - Pushed at: over 6 years ago - Stars: 0 - Forks: 0
snewhouse/exomiser-clone
Size: 8.79 KB - Last synced at: over 1 year ago - Pushed at: over 6 years ago - Stars: 0 - Forks: 0
