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

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

Whole Exome/Whole Genome Sequencing alignment pipeline

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

Clinical Whole Genome and Exome Sequencing Pipeline

Nature Medicine paper. A Multidimensional Precision Medicine Approach for Autism Subtype Identification.

Workspace for data science projects and NGS pipelines. Contains RStudio, Jupyter Notebook, VSCode and file manager. Can connect to Tailscale network to bypass firewalls.

An R package for summarizing and visualizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies generated by STAARpipeline

🐳 Dockerized WES pipeline for variants identification in mathced tumor-normal samples

Constructing Neoantigen Vaccine Pipeline with pVACtools

LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.

An open-source and scalable solution to NGS analysis powered by the NIH's Biowulf cluster.

Whole Exome Sequencing end-to-end pipeline. Starting from whole exome fastq files: Data QC, Adapter Trimming, Reference Genome Alignment, SAM/BAM Validation, Data Recalibration and Variant Calling.

An app for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline in UK Biobank RAP

WDL-based pipelines

An app for automatically functionally annotating the variants of whole-genome/whole-exome sequencing (WGS/WES) studies and integrating the functional annotations with the genotype data using FAVORannotator in UK Biobank RAP

Workflows for whole-genome/exome sequencing data analysis

An app for summarizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies in UK Biobank RAP