whole-genome-sequencing 开源项目推荐（203 个）

nf-core /sarek

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

exon-research /genomi

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

flowhub-team /WholeGenomeSequencing-WGS

Whole Genome Sequencing analysis, WGS analysis

ShujiaHuang /ilus

一个轻便且变体调用流程生成器，用于全基因组测序（WGS）和全外显子测序数据（WES），采用GATK和Sentieon。 一个基于 GATK 和 Sentieon 的简易且全面的 WGS/WES 分析流程生成器。

nanoporetech /pipeline-structural-variation

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

li-lab-genetics /STAAR

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

TimD1 /vcfdist

vcfdist: Accurately benchmarking phased variant calls

li-lab-genetics /STAARpipeline

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

quinlan-lab /STRling

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

YuSugihara /QTL-seq

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

YuSugihara /MutMap

MutMap pipeline to identify causative mutations responsible for a phenotype

KalinNonchev /gnomAD_DB

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

edgardomortiz /Captus

Assembly of Phylogenomic Datasets from High-Throughput Sequencing data

hw538 /cfDNAPro

cfDNAPro specializes in standardized and robust cfDNA fragmentomic analysis

KCCG /mity

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

BU-ISCIII /plasmidID

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

li-lab-genetics /STAARpipeline-Tutorial

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

jlumpe /gambit

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

raonyguimaraes /mendelmd

An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.

OpenOmics /genome-seek

Clinical Whole Genome and Exome Sequencing Pipeline