variant-annotations
There are 32 repositories under variant-annotations topic.
broadinstitute/viral-ngs
Viral genomics analysis pipelines
brentp/echtvar
using all the bits for echt rapid variant annotation and filtering
KarchinLab/open-cravat
A modular annotation tool for genomic variants
biothings/myvariant.info
MyVariant.info: A BioThings API for human variant annotations
sigven/gvanno
Generic human DNA variant annotation pipeline
sigven/vcf2tsvpy
Genomic VCF to tab-separated values
bio-ontology-research-group/phenomenet-vp
A phenotype-based tool for variant prioritization in WES and WGS data
Wittelab/orchid
A novel management, annotation, and machine learning framework for analyzing cancer mutations
cccnrc/plot-VCF
visual analysis of your VCF files
kircherlab/CADD-SV
CADD-SV – a framework to score the effect of structural variants
mazzalab-ieo/renovo
Clinical machine-learning based interpreter of germline mutations.
CDCgov/NCHHSTP-DTBE-Varpipe-WGS
This repository contains an analysis pipeline developed to characterize WGS output
cmbi/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.
seanlaidlaw/Metallaxis
A Python GUI VCF viewer for SNP, indels, and TE.
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
kevin-wamae/snakemake-illumina-gatkvariant
A Snakemake workflow for variant calling using GATK4 best practices
ALAPY/AGx
Variant annotation and filtration server ALAPY Genome Explorer
nickzren/atav-database
A relational database stores per sample based sequencing data.
nmtrang00/Var_Annot_Eval
An empirical variant annotation and data evaluation pipeline.
cbrueffer/misc_bioinf
Repository for miscellaneous bioinformatics scripts that may be useful to others.
COMBAT-TB/tbvcfreport
Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)
Beth526/abstract_search_for_variant_annotation
neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC
kopalgarg/variantviewer
interactive variant tables for easy filtering
solida-core/diva
DiVA (DNA Variant Analysis) is a pipeline for Next-Generation Sequencing Exome data anlysis
TelentiLab/Omni
This is a public repo to introduce Omni and collect issues and feedback.
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.
auroramaurizio/WES_ESOCA
WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication
BCCDC-PHL/vcf-melt
Customized vcf_melt script from pyvcf. Handles snpEff-annotated vcf files
biocoderdev/weap
WEAP: An automatic and accelerated pipeline for analysing multi-sample whole exome sequencing data
maxim-k/PyVep
Python wrapper and web-server for Ensembl VEP