variant-annotations

viral-ngs: command line tools and wrappers for processing raw viral genomic data

using all the bits for echt rapid variant annotation and filtering

A modular annotation tool for genomic variants

MyVariant.info: A BioThings API for human variant annotations

Generic human DNA variant annotation pipeline

Genomic VCF to tab-separated values

A phenotype-based tool for variant prioritization in WES and WGS data

visual analysis of your VCF files

A novel management, annotation, and machine learning framework for analyzing cancer mutations

CADD-SV – a framework to score the effect of structural variants

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

Clinical machine-learning based interpreter of germline mutations.

A Python GUI VCF viewer for SNP, indels, and TE.

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their variant of interest in the context of general population-based genetic variation, and provides detailed information on pathogenic variants found across homologous protein domain positions, for GRCh37 and GRCh38.

This repository contains an analysis pipeline developed to characterize WGS output

A Snakemake workflow for variant calling using GATK4 best practices

A relational database stores per sample based sequencing data.

An empirical variant annotation and data evaluation pipeline.

Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)

Variant annotation and filtration server ALAPY Genome Explorer