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

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

Generic human DNA variant annotation pipeline

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.

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

A parser for immune receptor gene data, mainly IMGT references

Cross-reference 23andMe raw variant file with ClinVar

Comprehensive 4-month preconception guide for germline purity. Tracks lifestyle, nutrition, exercise, and stress for maximum reproductive health. Includes timelines, evidence-based checkpoints, and tools for monitoring progress and optimizing gamete quality for men and women.

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

CAYA Analysis

Germline variant calling pipeline

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