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

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

visual analysis of your VCF files

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.

This repository contains an analysis pipeline developed to characterize WGS output

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

A Snakemake workflow for variant calling using GATK4 best practices

Variant annotation and filtration server ALAPY Genome Explorer

An empirical variant annotation and data evaluation pipeline.

A relational database stores per sample based sequencing data.

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