- g
GIAB Benchmarking of HG002 Assemblies from HPRC Year 1 Bakeoff | gimi9.com
- gimi9.com
Updated Dec 20, 2021
Share
Facebook
Twitter
EmailClick to copy linkLink copiedCite(2021). GIAB Benchmarking of HG002 Assemblies from HPRC Year 1 Bakeoff | gimi9.com [Dataset]. https://gimi9.com/dataset/data-gov_giab-benchmarking-of-hg002-assemblies-from-hprc-year-1-bakeoff/Dataset updatedDec 20, 2021DescriptionThe 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).
GIAB Benchmarking of HG002 Assemblies from HPRC Year 1 Bakeoff
- data.nist.gov
- catalog.data.gov
Updated Dec 20, 2021ShareFacebookTwitterEmailClick to copy linkLink copiedCiteJustin Zook (2021). GIAB Benchmarking of HG002 Assemblies from HPRC Year 1 Bakeoff [Dataset]. http://doi.org/10.18434/mds2-2578Dataset updatedDec 20, 2021AuthorsJustin ZookLicensehttps://www.nist.gov/open/licensehttps://www.nist.gov/open/license
DescriptionThe 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).
Not seeing a result you expected?
Learn how you can add new datasets to our index.
FacebookTwitterEmailThe 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).