C++ library and cmdline tools for parsing and manipulating VCF files with python and zig bindings

Smart and Accurate Polishing of Phase Haplotypes Integrating Read Enhancements (SAPPHIRE)

A BioWDL workflow for generating gVCF files from BAM files.

Nextflow pipeline for GATK best practices (HaplotypeCaller)

A streamlined pipeline for germline variant calling on chromosome 11 using GATK. This repository includes workflows for data preprocessing, variant discovery, and annotation, with a focus on understanding genetic variations linked to disease-associated genes.