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ilmn-dragen-1kgp.yaml
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Name: "1000 Genomes Phase 3 Reanalysis with DRAGEN 3.5"
Description: This dataset contains alignment files and short nucleotide, copy number, and structural variant call files from the newly revised (n=3202) 1000 Genomes Project Phase 3 using Illumina DRAGEN v3.5.7b
Contact: "[Illumina, Inc.](mailto:[email protected])"
Documentation: "[DRAGEN Support Resources](https://support.illumina.com/sequencing/sequencing_software/dragen-bio-it-platform.html)"
ManagedBy: "[Illumina, Inc.](https://www.illumina.com/products/by-type/informatics-products/dragen-bio-it-platform.html)"
UpdateFrequency: Files may be updated subsequent to changes to the 1000 Genomes Project.
Tags:
- aws-pds
- life sciences
- health
- biology
- genetic
- genomic
- bam
- vcf
License: "TBD"
Resources:
- Description: BAM, SNV-vcf, SNV-gvcf, STR-vcf, STR-bam, SV-vcf, ROH-vcf, CNV-vcf, CNV-bw files in a public S3 bucket.
ARN: arn:aws:s3:::1000genomes-dragen
Region: us-west-2
Type: S3 Bucket
DataAtWork:
Tutorials:
- Title: "DRAGEN Quick Start on AWS"
URL: https://github.com/aws-quickstart/quickstart-illumina-dragen
AuthorName: AWS Quick Start Team
AuthorURL: https://github.com/aws-quickstart
Tools & Applications:
- Title: "DRAGEN on BaseSpace Sequence Hub"
URL: https://www.illumina.com/products/by-type/informatics-products/basespace-sequence-hub.html#key-features
AuthorName: Illumina Inc.
AuthorURL: https://www.illumina.com/
- Title: "DRAGEN 3.7.5b Release"
URL: https://support.illumina.com/content/dam/illumina-support/documents/downloads/software/dragen/DRAGEN-3.5.7b-Customer-Release-Notes-1000000131537-00.pdf
AuthorName: Illumina Inc.
AuthorURL: https://www.illumina.com/
Publications:
- Title: "precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions (Preprint)"
URL: https://www.biorxiv.org/content/10.1101/2020.11.13.380741v1
AuthorName: Olson et al (2020)