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.
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| Name | Affiliation(s) |
|---|---|
| David Porubsky | University of Washington |
| Michelle D. Noyes | University of Washington |
| Nidhi Koundinya | University of Washington |
| William T. Harvey | University of Washington |
| Jiadong Lin | University of Washington |
| Sean McGee | University of Washington |
| Hyeonsoo Jeong | University of Washington |
| Katherine M. Munson | University of Washington |
| Kendra Hoekzema | University of Washington |
| Jordan Knuth | University of Washington |
| Gage H. Garcia | University of Washington |
| Joshua D. Smith | University of Washington |
| Evan E. Eichler | University of Washington |
| Harriet Dashnow | University of Utah; University of Colorado Anschutz Medical Campus |
| Thomas A. Sasani | University of Utah |
| Cody J. Steely | University of Utah; University of Kentucky |
| Thomas J. Nicholas | University of Utah |
| W. Scott Watkins | University of Utah |
| Brent S. Pedersen | University of Utah |
| Michael E. Goldberg | University of Utah |
| Hannah C. Happ | University of Utah |
| Deborah W. Neklason | University of Utah |
| Lynn B. Jorde | University of Utah |
| Aaron R. Quinlan | University of Utah |
| Glennis A. Logsdon | University of Washington; University of Pennsylvania |
| Keisuke K. Oshima | University of Pennsylvania |
| Pille Hallast | The Jackson Laboratory for Genomic Medicine |
| Peter Ebert | Heinrich Heine University |
| Charles Lee | The Jackson Laboratory for Genomic Medicine |
| Zev N. Kronenberg | PacBio |
| Tom Mokveld | PacBio |
| Cillian Nolan | PacBio |
| Egor Dolzhenko | PacBio |
| William J. Rowell | PacBio |
| Cairbre Fanslow | PacBio |
| Christine Lambert | PacBio |
| Michael A. Eberle | PacBio |
| Andrea Guarracino | University of Tennessee |
| Erik Garrison | University of Tennessee |
| Kirill Grigorev | NASA Ames Research Center; Blue Marble Space Institute of Science |
| Christopher E. Mason | Weill Cornell Medicine |
| Tiffany Y. Leung | BC Cancer Agency |
| Vincent C.T. Hanlon | BC Cancer Agency |
| Daniel D. Chan | BC Cancer Agency |
| Yanni Wang | BC Cancer Agency |
| Peter M. Lansdorp | BC Cancer Agency; University of British Columbia |
| Shawn E. Levy | Element Biosciences |
