harvardinformatics/snparcher

A Snakemake workflow for calling small and structural variants under any kind of scenario (tumor/normal, tumor/normal/relapse, germline, pedigree, populations) via the unified statistical model of Varlociraptor.

Flexible, uncertainty-aware variant calling with parameter free filtration via FDR control.

Bayesian haplotype-based genetic polymorphism discovery and genotyping.

DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.

Reusable genomic evidence for research and analysis tools: exact read evidence, portable datasets, and managed analyzers.

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

This is the official development repository for BCFtools. See installation instructions and other documentation here http://samtools.github.io/bcftools/howtos/install.html

A structural variation pipeline for short-read sequencing

tools for working with genome variation graphs