Registry of Open Data on AWS

Usage examples for all datasets listed in the Registry of Open Data on AWS tagged with cram.

1000 Genomes Phase 3 Reanalysis with DRAGEN 3.5, 3.7, 4.0, and 4.2

Tutorials

DRAGEN Quick Start on AWS by AWS Quick Start Team

Tools & Applications

Publications

Accurate and efficient calling of small and large variants from popgen datasets using the DRAGEN Bio-IT Platform by Illumina Inc. (2021)
Data solution empowering population genomics by Illumina Inc. (2021)
Demystifying the versions of GRCh38/hg38 reference genomes, how they are used in DRAGEN and their impact on accuracy by Illumina Inc. (2021)
DRAGEN Sets New Standard for Data Accuracy in PrecisionFDA Benchmark Data. Optimizing Variant Calling Performance with Illumina Machine Learning and DRAGEN Graph by Illumina Inc. (2022)
DRAGEN Wins at PrecisionFDA Truth Challenge V2 Showcase Accuracy Gains from Alt-aware Mapping and Graph Reference Genomes by Illumina Inc. (2020)
Genotyping variants at population scale using DRAGEN gVCF Genotyper by Illumina Inc. (2023)
Overcoming high homology to detect variation in CYP21A2 with whole-genome sequencing in DRAGEN by Illumina Inc. (2023)
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions (Preprint) by Olson et al (2020)
Unveiling Illumina Connected Annotations: A breakthrough in genomic annotation by Illumina Inc. (2024)

NIH NCBI Sequence Read Archive (SRA) on AWS

Tutorials

Tools & Applications

SRA Toolkit by NCBI SRA

Publications

The Sequence Read Archive by Leinonen et al (2011)

COVID-19 Genome Sequence Dataset

Tools & Applications

Download SRA sequence data using Amazon Web Services (AWS) by NCBI SRA

Human PanGenomics Project

Publications

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes by Shafin et al (2020)

If you want to add a dataset or usage example to this registry, please follow the instructions on the Registry of Open Data on AWS GitHub repository or tell us about your project.