whole-genome-sequencing

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

Local-first, open-source Claude Science alternative, before Claude Science is a thing. Turn your AI agent into personal DNA expert.

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 by using GATK and Sentieon. 一个基于 GATK 和 Sentieon 的简易且全面的 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

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

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

MutMap pipeline to identify causative mutations responsible for a phenotype

QTL-seq pipeline to identify causative mutations responsible for a phenotype

Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.

Assembly of Phylogenomic Datasets from High-Throughput Sequencing data

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

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

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

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

Clinical Whole Genome and Exome Sequencing Pipeline

Whole Exome/Whole Genome Sequencing alignment pipeline