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    • GIAB Benchmarking of HG002 Assemblies from HPRC Year 1 Bakeoff

    Metadata Updated: September 30, 2025

    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).

    Access & Use Information

    Public: This dataset is intended for public access and use. License: See this page for license information.

    Downloads & Resources

    References

    https://doi.org/10.1101/2022.03.06.483034

    Dates

    Metadata Created Date September 30, 2025
    Metadata Updated Date September 30, 2025
    Data Update Frequency irregular

    Metadata Source

    Harvested from Commerce Non Spatial Data.json Harvest Source

    Other Data Resources

    Additional Metadata

    Resource Type Dataset
    Metadata Created Date September 30, 2025
    Metadata Updated Date September 30, 2025
    Publisher National Institute of Standards and Technology
    Maintainer
    Identifier ark:/88434/mds2-2578
    Language en
    Data Last Modified 2021-12-20 00:00:00
    Rights The assemblies provided by Human Pangenome Reference Consortium (HPRC) for evaluation were generated by the HPRC, and its data use protocol is at https://humanpangenome.org/data-use-protocol/
    Category Bioscience:Genomic measurements
    Public Access Level public
    Data Update Frequency irregular
    Bureau Code 006:55
    Metadata Context https://project-open-data.cio.gov/v1.1/schema/catalog.jsonld
    Schema Version https://project-open-data.cio.gov/v1.1/schema
    Catalog Describedby https://project-open-data.cio.gov/v1.1/schema/catalog.json
    Harvest Object Id f9dd8ce6-3873-4353-afcd-e170a72ea201
    Harvest Source Id bce99b55-29c1-47be-b214-b8e71e9180b1
    Harvest Source Title Commerce Non Spatial Data.json Harvest Source
    Homepage URL https://data.nist.gov/od/id/mds2-2578
    License https://www.nist.gov/open/license
    Program Code 006:045
    Related Documents https://doi.org/10.1101/2022.03.06.483034
    Source Datajson Identifier True
    Source Hash 8b900c674a3103a1abd0bdeb30c581f271d1ccdfc2f07ecdec75415b706bff8b
    Source Schema Version 1.1

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