GRIDSS: the Genomic Rearrangement IDentification Software Suite

Structural variant and indel caller for mapped sequencing data

SHEPHERD: Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

Explain complex systems using visuals and simple terms. Help you prepare for system design interviews.

Python command line tool for Multi-Trait Analysis of GWAS (MTAG)

A Javascript/d3 embeddable plugin for interactively visualizing statistical genetic data from customizable sources.

Detect clonal haematopoiesis of indeterminate potential (CHIP) mutations using the GATK4 Mutect2 somatic variant calling pipeline and the Cromwell workflow engine.

Host Shiny applications over the web.

An R package for fast and efficient visualizing of GWAS results using Q-Q and Manhattan plots directly from PLINK output files.

ILIAD: A suite of automated Snakemake workflows for processing genomic data for downstream applications

🔬 R package: This is the Bioconductor devel version of the illuminaio package.