Platinum Pedigree

Description

The Platinum Pedigree Consortium (PCC) is a collaborative project to create a comprehensive reference for human genetic variation using a four-generation, 28-member family (CEPH-1463). We employed five different short and long-read sequencing technologies to generate phased assemblies and characterize both inherited and de novo variation, including at some of the most difficult to genotype genomic regions such as tandem repeats, centromeres, and the Y chromosome. This extensive "truth set" is publicly available and can be used to test and benchmark new algorithms and technologies to better understand human genetic variation.

Update Frequency

As needed

License

CC BY 4.0

Documentation

https://github.com/Platinum-Pedigree-Consortium

Managed By

Platinum Pedigree Consortium

See all datasets managed by Platinum Pedigree Consortium.

Contact

https://github.com/Platinum-Pedigree-Consortium/Platinum-Pedigree-Datasets/issues

How to Cite

Platinum Pedigree was accessed on DATE from https://registry.opendata.aws/platinum-pedigree.

Usage Examples

Publications

• A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree by Porubsky et. al.
  
• The Platinum Pedigree: A long-read benchmark for genetic variants by Kronenberg et. al.