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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

