Powered by Nextflow, VarClass Studio is a user-friendly pipeline that unites genomic data streams, AI predictors, and conventional bioinformatics tools with an LLM-assisted module for literature retrieval and clinical reporting to deliver automated, transparent, and evidence-based variant classifications.
Under Construction
Map the primary screens and handoffs from submission through interpretation. Each stage card should translate directly into UI modules, service integrations, and metrics that matter to the team.
Submit single variants or batched manifests with CHR:POS, REF/ALT coordinates, then automatically trigger the bioinformatics pipeline to append metascores, molecular assays, allele frequencies, and phenotype tags, all within the same module.
Run rule-based and ML-assisted classification to produce ACMG-aligned outputs with confidence metrics ready for review. Hand off the evidence bundle to the interpretation module so analysts and the LLM can co-author narratives and finalize reporting artifacts.
Developed by: Bryan Lee-Arboleda
Bioinformatics Master's thesis project at Amsterdam UMC, Amsterdam, The Netherlands, 2025-2026
Under the supervision of:
Philip Jansen, MD, PhD - Clinical Geneticist
Peter Lauffer, MD, PhD
This pipeline is provided solely for research and educational use. By accessing or using it, you agree to all third-party terms. Commercial or for-profit use is prohibited.
VarClass Studio Research-Use Service License v1.0Review third-party license details on theLicensespage.