CAYA Analysis

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

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

CAYA Analysis

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

Cross-reference 23andMe raw variant file with ClinVar

A parser for immune receptor gene data, mainly IMGT references

Tumour-in-Normal Contamination assessment with evolutionary theory.

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

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

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

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.

Generic human DNA variant annotation pipeline

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

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

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