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Human Pangenome Reference Consortium Announced Global Release of Year 1 Sequencing Data

Overview:  Researchers from the Human Pangenome Reference Consortium announce the open access publication of Year 1 Sequencing data from 30 samples, representing the first major data release from this project. In addition to data produced as part of the HPRC, the release includes data from over 15 additional samples produced outside of the HPRC.

Sequencing Data Production Centers and Industry partners included the following:

  • PacBio Hifi Data Produced By UW and WashU with support from PacBio
  • Hi-C Sequencing Data Produced By UCSC
  • Strand-Seq Data Produced By EMBL
  • Oxford Nanopore Data Produced By UCSC
  • BioNano Data Produced By Rockefeller
  • Karyotypes & Cell Line Microarray Data Produced By Coriell and CHOP

HPRC members selected samples for this study based on adding diversity to the current human reference. Samples were selected from the 1,000 Genome Collection at Coriell and are broadly consented to, allowing for maximum data sharing enabling scientists to work together.

Production teams generated the data as part of NHGRI’s Human Genome Reference Program, a multi-faceted program to create a complete representation of haplotype variation and an ecosystem of tools. HPRC seeks to work with other international teams focused on building the human pangenome reference. In keeping with the spirit of the HPRC, data is being made available through three primary data repositories – NCBIEMBL-EBI, and DDBJ.

This data release represents the consortium’s commitment to its mission under some of the most challenging research conditions due to the COVID pandemic. All work was completed within the safety guidelines and mandates of each entity involved in the project.

Note that the HPRC Year 1 data is pending publication, currently scheduled for mid-2021. If you would like to publish using this, please contact the HPRC Coordinating Center at hprcadmin@gowustl.onmicrosoft.com.

Additional efforts by the HPRC this year will focus on the creation and release of assemblies and annotation for the Year 1 genomes and data production for Year 2 samples.

Support:  Support for this study comes from NHGRI:

  • A Human Genome Reference Center (HGRC; RFA-HG-19-004)
  • High-Quality Human Reference Genomes (HGRQ; RFA-HG-19-002)
  • Genome Reference Representations (GRR; RFA-HG-19-003)
  • Informatics tools for the use of the human genome reference (see Concept documents)
  • Technology development for complete sequencing of genomes (NOT-HG-19-011)

Contact: For additional information about the human pangenome reference consortium or apply to become an associate member, please visit the HPRC Web Site or email the HPRC Coordinating Center hprcadmin@gowustl.onmicrosoft.com.

Author / source: Human Pangenome / https://humanpangenome.org/year-1-sequencing-data-release/

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