DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.

Official code repository for GATK versions 4 and up

Integrative Genomics Viewer. Fast, efficient, scalable visualization tool for genomics data and annotations

This repository collects pipelines, codes, and some intermediate results for the study of mosaic SNV/Indels for sperm, blood, and other samples of a control cohort.

BSMN common data processing pipeline

This repository collects pipelines, codes, and some intermediate results for adult brain somatic mosaicism study.

Posit Cheat Sheets - Can also be found at https://posit.co/resources/cheatsheets/.

This repo is archived, these workflows will be housed in the GATK repository under the scripts directory. These workflows are also organized in Dockstore in the GATK Best Practices Workflows collec…

Resource of human chromosome schematics & images

This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are also organized in Dockstore in the GATK Best Practices Workflo…

A mosaic detecting software based on phasing and random forest

Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools

A structural variation pipeline for short-read sequencing