DELLY2: Structural variant discovery by integrated paired-end and split-read analysis

Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing

Nextflow bioinformatics pipeline for large-scale analysis of Multiple Myeloma genomes

nRex: Germline and somatic single-nucleotide, short indel and structural variant calling

A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data

Tumour-in-Normal Contamination assessment with evolutionary theory.

Generic human DNA variant annotation pipeline

This package provide rest api for azure cosmos germlin graph data base query access

pyAmpli: an amplicon-based variant filter pipeline for targeted enriched resequencing data

Workflow for biological validation of germline SNP and indel variant datasets.

CAYA Analysis

Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing

VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number variants (CNVs) from targeted next-generation sequencing data. For algorithmic details, see Pugh TJ et al. Genet Med. 2016 Jul;18(7):712-9.

CAYA Analysis

A parser for immune receptor gene data, mainly IMGT references

Cross-reference 23andMe raw variant file with ClinVar