Skip to content

Commit

Permalink
Merge branch 'main' into main
Browse files Browse the repository at this point in the history
  • Loading branch information
KhrystynaFaryna authored Oct 8, 2024
2 parents 651c5b3 + c7e06aa commit fd260b9
Show file tree
Hide file tree
Showing 2 changed files with 35 additions and 0 deletions.
31 changes: 31 additions & 0 deletions datasets/platinum-pedigree.yaml
Original file line number Diff line number Diff line change
@@ -0,0 +1,31 @@
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.
4 changes: 4 additions & 0 deletions datasets/uniprot.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -18,6 +18,10 @@ Tags:
- SPARQL
License: http://creativecommons.org/licenses/by/4.0/
Resources:
- Description: UniProt 2024_05
ARN: arn:aws:s3:::aws-open-data-uniprot-rdf/2024-05/
Region: eu-west-3
Type: S3 Bucket
- Description: UniProt 2024_03
ARN: arn:aws:s3:::aws-open-data-uniprot-rdf/2024-03/
Region: eu-west-3
Expand Down

0 comments on commit fd260b9

Please sign in to comment.