Selected demonstrations

Portfolio

A production-grade demo pipeline designed to showcase modern Nextflow architecture, testing, AWS execution, benchmarking, and scientific reporting.

⚭

Germline Variant Calling Pipeline

End-to-end WGS workflow with GIAB benchmarking

FASTQ
→
QC
→
Align
→
Process
→
Call
→
VEP
BWA-MEM2 alignment
HG002 (GIAB) benchmark
DeepVariant calling
Precision, recall & F1
VEP annotation
Somalier + VerifyBamID2 QC
nf-test + GitHub Actions
AWS Batch, Wave & Fusion
Pipeline architecture and benchmarking visualization for the Helix Workflows germline variant calling demo pipeline

What the demos are designed to prove

Scientific correctness is only one dimension. Each portfolio project also demonstrates the engineering practices required to operate bioinformatics workflows reliably in production.

⚗

Testability

Every process is designed with module-level nf-test coverage plus end-to-end smoke testing.

✓

Benchmarking

An optional profile compares calls against a GIAB truth set (HG002) using bcftools and hap.py, reporting precision, recall, and F1.

☁

Portability

The same workflow can move from local development to AWS Batch without rewriting scientific logic.