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GIAB Benchmarking of HG002 Assemblies from HPRC Year 1 Bakeoff

Metadata Updated: July 29, 2022

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 June 22, 2022
Metadata Updated Date July 29, 2022
Data Update Frequency irregular

Metadata Source

Harvested from NIST

Additional Metadata

Resource Type Dataset
Metadata Created Date June 22, 2022
Metadata Updated Date July 29, 2022
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/data.json
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 f36a652f-b438-4949-b2d1-3b034836e2ee
Harvest Source Id 74e175d9-66b3-4323-ac98-e2a90eeb93c0
Harvest Source Title NIST
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 0f8b9d31c901caab41b62d16120490b274c6f9ff
Source Schema Version 1.1

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