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Name: 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. | ||
Documentation: https://github.com/Platinum-Pedigree-Consortium | ||
Contact: https://github.com/Platinum-Pedigree-Consortium/Platinum-Pedigree-Datasets/issues | ||
ManagedBy: Platinum Pedigree Consortium | ||
UpdateFrequency: As needed | ||
Tags: | ||
- genomic | ||
- genotyping | ||
- long read sequencing | ||
- bioinformatics | ||
- Homo sapiens | ||
- life sciences | ||
- whole genome sequencing | ||
License: "[CC BY 4.0](https://creativecommons.org/licenses/by/4.0/)" | ||
Resources: | ||
- Description: https://github.com/Platinum-Pedigree-Consortium/Platinum-Pedigree-Datasets | ||
ARN: arn:aws:s3:::platinum-pedigree-data | ||
Region: us-west-1 | ||
Type: S3 Bucket | ||
DataAtWork: | ||
Tutorials: | ||
Tools & Applications: | ||
Publications: | ||
- Title: "A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree" | ||
URL: https://www.biorxiv.org/content/10.1101/2024.08.05.606142v1 | ||
AuthorName: Porubsky et. al. | ||
AuthorURL: https://eichlerlab.gs.washington.edu/porubsky.html | ||
- Title: "The Platinum Pedigree: A long-read benchmark for genetic variants" | ||
URL: https://www.biorxiv.org/content/10.1101/2024.10.02.616333v1 | ||
AuthorName: Kronenberg et. al. |
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