GIAB Benchmarking Of HG002 Assemblies From HPRC Year 1 Bakeoff

The Human Pangenome Reference Consortium (HPRC) tested which combination of current genome sequencing and automated assembly approaches yields the most complete, accurate, and cost-effective diploid genome assemblies with minimal manual curation. Assemblies were generated for GIAB HG002. Variant calls from twenty-nine assemblies were evaluated by NIST using dipcall v0.3 (https://github.com/lh3/dipcall) to produce variant calls when aligned to GRCh38. Benchmarking of small variant calls was then performed against GIAB benchmark v4.2.1 using hap.py v3.12 (https://github.com/Illumina/hap.py).
Organization: Department of Commerce
Last updated: 2025-09-30T05:02:58.592380
Tags: human-genomics-dna-sequencing-reference-materials-genome-assembly-variant-calling-benchmarking-