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

MyVariant.info: A BioThings API for human variant annotations

Generic human DNA variant annotation pipeline

Genomic VCF to tab-separated values

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.

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.

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)

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

DiVA (DNA Variant Analysis) is a pipeline for Next-Generation Sequencing Exome data anlysis

neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC

WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication

Python wrapper and web-server for Ensembl VEP

Customized vcf_melt script from pyvcf. Handles snpEff-annotated vcf files