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

Whole Genome Sequencing analysis, WGS analysis

A lightweight and handy variant calling pipeline generator for whole-genome sequencing (WGS) and whole exom sequencing data (WES) analysis. 一个简易且全面的 WGS/WES 分析流程生成器.

Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data

An R package for performing STAAR procedure in whole-genome sequencing studies

vcfdist: Accurately benchmarking phased variant calls

Detect novel (and reference) STR expansions from short-read data

An R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline

PlasmidID is a mapping-based, assembly-assisted plasmid identification tool that analyzes and gives graphic solution for plasmid identification.

mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data

A methodology to rapidly leverage whole genome sequencing of bacterial isolates for clinical identification.

Whole Exome/Whole Genome Sequencing alignment pipeline

cfDNAPro specializes in standardized and robust cfDNA fragmentomic analysis

The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary

An R package for performing MetaSTAAR procedure in whole-genome sequencing studies

JARVIS: a comprehensive deep learning framework to prioritise non-coding variants in whole genomes

BACTpipe: An assembly and annotation pipeline for bacterial genomics

Assembly of Phylogenomic Datasets from High-Throughput Sequencing data

vSNP -- validate SNPs

Clinical Whole Genome and Exome Sequencing Pipeline