Human (HG003)
Homo_sapiens - Genome Reference Consortium
LRUL00000000
This assembly is the FATHER (HG003/NA24149/hu6E4515) (GCA_001549605.1) in the Genome in a Bottle Consortium Eastern European Ashkenazic Jewish ancestry, Father-Mother-Son trio sequencing set (NIST RM8392). These standardized genomes are part of a collection of datasets used as reference materials for evaluating/benchmarking gene sequencing.
This assembly only contains unplaced WGS contigs. Datasets and other reference materials pertaining to this assembly can be found on the GIAB github page.
For More information regarding these Pacbio Assemblies (with PBcR), please see the publication Scientific Data 3, Article number: 160025 (2016).
Example regionGenome assembly: CURRENT (LRUL00000000)
More information and statistics (N50, Coverage, BUSCO)
Retrieve a live status of the current tiling path using the tool Chromoview
Display your data in gEVAL
Punchlist OverviewPunchlists
The Human Punchlists are automated lists created to facilitate identification of and navigation to common issues or regions of interest.
Examples include:
- Gap Locations
- Overlap Issues
- Clone Spanning Locations
If you would like to recommend a punchlist to be added to a specific organism or in general please contact us
The Genome Reference Consortium
The Human gEVAL is maintained and improved by the Genome Reference Consortium (GRC)
Jira Ticketing System: Jira is the ticketing tracking system used by the GRC for genome issues. This can be a gap, path, variation, gene or other issues submitted by external users
Comparative genomics
gEVAL provides intra-species alignments. This is available for intermediate builds, major reference releases, and WGS/NGS assemblies.