Viral genomics analysis pipelines

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

Clinical machine-learning based interpreter of germline mutations.

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.

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

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

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.

Variant annotation and filtration server ALAPY Genome Explorer

Repository for miscellaneous bioinformatics scripts that may be useful to others.