hg002

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Benchmarking of how the quality of the reference genome assembly affects the discovery of structural variants, using aligners: Minimap2 & Winnowmap

GPU-accelerated germline WGS pipeline for the HG002 reference sample, built with NVIDIA Parabricks

bioinformatics genomics gpu nvidia gatk variant-calling wgs giab parabricks hg002

Variant calling benchmarking on GIAB HG002 (WES chr22) using hap.py; SNP/INDEL Precision/Recall/F1.

bioinformatics ngs gatk variant-calling bwa giab hg002 hap-py

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