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cancergenomiclife sciencesSTRIDESwhole genome sequencing
The Cancer Genome Atlas (TCGA), a collaboration between the National Cancer Institute (NCI) and National Human Genome Research Institute (NHGRI), aims to generate comprehensive, multi-dimensional maps of the key genomic changes in major types and subtypes of cancer. TCGA has analyzed matched tumor and normal tissues from 11,000 patients, allowing for the comprehensive characterization of 33 cancer types and subtypes, including 10 rare cancers. The dataset contains open Clinical Supplement, Biospecimen Supplement, RNA-Seq Gene Expression Quantification, miRNA-Seq Isoform Expression Quantificati...
cancergenomiclife sciencesSTRIDESwhole genome sequencing
Therapeutically Applicable Research to Generate Effective Treatments (TARGET) is the collaborative effort of a large, diverse consortium of extramural and NCI investigators. The goal of the effort is to accelerate molecular discoveries that drive the initiation and progression of hard-to-treat childhood cancers and facilitate rapid translation of those findings into the clinic. TARGET projects provide comprehensive molecular characterization to determine the genetic changes that drive the initiation and progression of childhood cancers.The dataset contains open Clinical Supplement, Biospecimen...
bambioinformaticsbiologycramgeneticgenomicgenotypinglife sciencesmachine learningpopulation geneticsshort read sequencingstructural variationtertiary analysisvariant annotationwhole genome sequencing
This dataset contains alignment files and short nucleotide, copy number (CNV), repeat expansion (STR), structural variant (SV) and other variant call files from the 1000 Genomes Project Phase 3 dataset (n=3202) using Illumina DRAGEN v3.5.7b, v3.7.6, v4.0.3, and v4.2.7 software. All DRAGEN analyses were performed in the cloud using the Illumina Connected Analytics bioinformatics platform powered by Amazon Web Services (see 'Data solution empowering population genomics' for more information). The v3.7.6 and v4.2.7 datasets include results from trio small variant, de novo structural vari...
cancergeneticgenomicHomo sapienslife sciencespediatricSTRIDESstructural birth defectwhole genome sequencing
The NIH Common Fund's Gabriella Miller Kids First Pediatric Research Program’s (“Kids First”) vision is to “alleviate suffering from childhood cancer and structural birth defects by fostering collaborative research to uncover the etiology of these diseases and by supporting data sharing within the pediatric research community.” The program continues to generate and share whole genome sequence data from thousands of children affected by these conditions, ranging from rare pediatric cancers, such as osteosarcoma, to more prevalent diagnoses, such as congenital heart defects. In 2018, Kids Fi...
bioinformaticsgeneticgenomiclife sciencespopulationpopulation geneticsshort read sequencingwhole genome sequencing
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators that aggregates and harmonizes both exome and genome data from a wide range of large-scale human sequencing projects. The summary data provided here are released for the benefit of the wider scientific community without restriction on use. The v4.1 data set (GRCh38) spans 730,947 exome sequences and 76,215 whole-genome sequences from unrelated individuals, of diverse ancestries, sequenced sequenced as part of various disease-specific and population genetic studies. The gnomAD Principal Investigators and team can be found here, and the groups that have contributed data to the current release are listed here. Sign up for the gnom...
cancergeneticgenomicHomo sapienslife sciencesSTRIDEStranscriptomicswhole genome sequencing
The Cancer Cell Line Encyclopedia (CCLE) project is an effort to conduct a detailed genetic characterization of a large panel of human cancer cell lines. The CCLE provides public access to genomic data, visualization and analysis for over 1100 cancer cell lines. This dataset contains RNA-Seq Aligned Reads, WXS Aligned Reads, and WGS Aligned Reads data.
fastageneticgenomiclife sciencesmetagenomicsSTRIDEStranscriptomicswhole exome sequencingwhole genome sequencing
This repository is a re-analysis of the NCBI Sequence Read Archive (SRA), December 2023 freeze, to make it more accessible. The SRA is an open access database of biological sequences, containing raw data from high-throughput DNA and RNA sequencing platforms. It is the largest database of public DNA sequences worldwide, containing a wealth of genomic diversity across all living organisms. This repository contains Logan, a set of compressed FASTA files for all individual SRA accessions, in the form of unitigs and contigs. Borrowing methods from the realm of genome assembly, unitigs preserve near...
cancergeneticgenomiclife sciencesSTRIDESwhole genome sequencing
The Relating Clinical Outcomes in Multiple Myeloma to Personal Assessment of Genetic Profile study is the Multiple Myeloma Research Foundation (MMRF)’s landmark personalized medicine initiative. CoMMpass is a longitudinal observation study of around 1000 newly diagnosed myeloma patients receiving various standard approved treatments. The MMRF’s vision is to track the treatment and results for each CoMMpass patient so that someday the information can be used to guide decisions for newly diagnosed patients. CoMMpass checked on patients every 6 months for 8 years, collecting tissue samples, gene...
bamcramfastqgeneticgenomiclife sciencesSTRIDEStranscriptomicswhole exome sequencingwhole genome sequencing
The Sequence Read Archive (SRA), produced by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH), stores raw DNA sequencing data and alignment information from high-throughput sequencing platforms. The SRA provides open access to these biological sequence data to support the research community's efforts to enhance reproducibility and make new discoveries by comparing data sets. Buckets in this registry contain public SRA data in the original (user submitted) format from select high value and newly-rel...
cancergenomiclife sciencesSTRIDESwhole genome sequencing
The Molecular Profiling to Predict Response to Treatment (MP2PRT) program is part of the NCI's Cancer Moonshot Initiative. The aim of this program is the retrospective characterization and analysis of biospecimens collected from completed NCI-sponsored trials of the National Clinical Trials Network and the NCI Community Oncology Research Program. This study, titled "Identification of Genetic Changes Associated with Relapse and/or Adaptive Resistance in Patients Registered as Favorable Histology Wilms Tumor on AREN03B2", performs genomic characterization (WGS 30X, Total RNAseq, mi...
bioinformaticsbiologygeneticgenomicinfrastructurelife sciencessingle-cell transcriptomicstranscriptomicswhole genome sequencing
Pre-built refgenie reference genome data assets used for aligning and analyzing DNA sequence data.
cancergenomiclife sciencesSTRIDEStranscriptomicswhole genome sequencing
The goal of the project is to identify recurrent genetic alterations (mutations, deletions, amplifications, rearrangements) and/or gene expression signatures. National Cancer Institute (NCI) utilized whole genome sequencing and/or whole exome sequencing in conjunction with transcriptome sequencing. The samples were processed and submitted for genomic characterization using pipelines and procedures established within The Cancer Genome Analysis (TCGA) project.
cancerepigenomicsgenomiclife sciencesSTRIDEStranscriptomicswhole exome sequencingwhole genome sequencing
The Exceptional Responders Initiative is a pilot study to investigate the underlying molecular factors driving exceptional treatment responses of cancer patients to drug therapies. Study researchers will examine molecular profiles of tumors from patients either enrolled in a clinical trial for an investigational drug(s) and who achieved an exceptional response relative to other trial participants, or who achieved an exceptional response to a non-investigational chemotherapy. An exceptional response is defined as achievement of either a complete response or a partial response for at least 6 mon...
fastqgeneticgenomiclife scienceswhole genome sequencing
The 1000 Genomes Project is an international collaboration which has established the most detailed catalogue of human genetic variation, including SNPs, structural variants, and their haplotype context. The final phase of the project sequenced more than 2500 individuals from 26 different populations around the world and produced an integrated set of phased haplotypes with more than 80 million variants for these individuals.
bioinformaticsbiologygenomiclife sciencesmappingmedicinereference indexwhole genome sequencing
Genomic tools use reference databases as indexes to operate quickly and efficiently, analogous to how web search engines use indexes for fast querying. Here, we aggregate genomic, pan-genomic and metagenomic indexes for analysis of sequencing data.
bambioinformaticscoronavirusCOVID-19fastafastqgeneticgenomicglobalhealthlife scienceslong read sequencingSARS-CoV-2vcfviruswhole genome sequencing
The Sequence Read Archive (SRA) is the primary archive of high-throughput sequencing data, hosted by the National Institutes of Health (NIH). The SRA represents the largest publicly available repository of SARS-CoV-2 sequencing data. This dataset was created by DNAstack using SARS-CoV-2 sequencing data sourced from the SRA. Where possible, raw sequence data were processed by DNAstack through a unified bioinformatics pipeline to produce genome assemblies and variant calls. The use of a standardized workflow to produce this harmonized dataset allows public data generated using different methodol...
cancergenomiclife sciencesSTRIDESwhole genome sequencing
Biopsies of castration resistant prostate cancer metastases were subjected to whole genome sequencing (WGS), along with RNA-sequencing (RNA-Seq). The overarching goal of the study is to illuminate molecular mechanisms of acquired resistance to therapeutic agents, and particularly androgen signaling inhibitors, in the treatment of metastatic castration resistant prostate cancer (mCRPC). This study is made available on AWS via the NIH STRIDES Initiative.
bioinformaticsgeneticgenomiclife sciencesmetagenomicsviruswhole genome sequencing
Preprocessed databases for use with the Hecatomb pipeline for viral and phage sequence annotation.
bioinformaticsbiologygenomiclife sciencesmetagenomicsmicrobiomereference indexwhole genome sequencing
This dataset comprises pre-built indexes for the bioinformatics software Kaiju, which is used for taxonomic classification of metagenomic sequencing data. Various indexes for different source reference databases are available.
cancerepigenomicsgenomiclife sciencesSTRIDESwhole exome sequencingwhole genome sequencing
We performed whole genome sequencing and whole exome sequencing of 31 lung adenocarcinoma (LUAD) samples from the Environment And Genetics in Lung cancer Etiology (EAGLE) study. The EAGLE study is made available on AWS via the NIH STRIDES Initiative (https://aws.amazon.com/blogs/publicsector/aws-and-national-institutes-of-health-collaborate-to-accelerate-discoveries-with-strides-initiative/).
cancergeneticgenomiclife sciencesSTRIDEStranscriptomicswhole genome sequencing
This study generated a collection of patient-derived pancreatic normal and cancer organoids and it was sequenced using Whole Genome Sequencing (WGS), Whole Exome Sequencing (WXS) and RNA-Seq as well as matched tumor and normal tissue if available. The study provides a valuable resource for pancreatic cancer researchers. The dataset contains open RNA-Seq Gene Expression Quantification data and controlled WGS/WXS/RNA-Seq Aligned Reads, WXS Annotated Somatic Mutation, WXS Raw Somatic Mutation, and RNA-Seq Splice Junction Quantification.
genetichealthHomo sapienslife scienceslong read sequencingmappingvariant annotationvcfwhole genome sequencing
Reference data bundle for analyzing HiFi human whole genome sequencing data
bambioinformaticsbiologycoronavirusCOVID-19cramfastqgeneticgenomichealthlife sciencesMERSSARSSTRIDEStranscriptomicsviruswhole genome sequencing
This repository within the ACTIV TRACE initiative houses a comprehensive collection of datasets related to SARS-CoV-2. The processing of SARS-CoV-2 Sequence Read Archive (SRA) files has been optimized to identify genetic variations in viral samples. This information is then presented in the Variant Call Format (VCF). Each VCF file corresponds to the SRA parent-run's accession ID. Additionally, the data is available in the parquet format, making it easier to search and filter using the Amazon Athena Service. The SARS-CoV-2 Variant Calling Pipeline is designed to handle new data every six ho...
cancergenomiclife sciencesSTRIDESwhole genome sequencing
The Human Cancer Models Initiative (HCMI) is an international consortium that is generating novel, next-generation, tumor-derived culture models annotated with genomic and clinical data. HCMI-developed models and related data are available as a community resource. The NCI is contributing to the initiative by supporting four Cancer Model Development Centers (CMDCs). CMDCs are tasked with producing next-generation cancer models from clinical samples. The cancer models include tumor types that are rare, originate from patients from underrepresented populations, lack precision therapy, or lack ca...
bioinformaticsbiologyfast5fastqgenomicHomo sapienslife scienceswhole genome sequencing
The ont-open-data registry provides reference sequencing data from Oxford Nanopore Technologies to support, 1) Exploration of the characteristics of nanopore sequence data. 2) Assessment and reproduction of performance benchmarks 3) Development of tools and methods. The data deposited showcases DNA sequences from a representative subset of sequencing chemistries. The datasets correspond to publicly-available reference samples (e.g. Genome In A Bottle reference cell lines). Raw data are provided with metadata and scripts to describe sample and data provenance.
autism spectrum disorderbamgeneticgenomiclife sciencesvcfwhole genome sequencing
iHART is the Hartwell Foundation’s Autism Research and Technology Initiative. This release contains whole genome data from over 1000 families with 2 or more children with autism, of which biomaterials were provided by the Autism Genetic Resource Exchange (AGRE).
assemblybioinformaticsbiologycontaminationfastageneticgenomehealthlife scienceswhole genome sequencing
Sequence database used by FCS-GX (Foreign Contamination Screen - Genome Cross-species aligner) to detect contamination from foreign organisms in genome sequences.
analysis ready databiodiversitybioinformaticsbiologyfastagenomegenomicgraphinformation retrievallife sciencesmedicinemetagenomicsmicrobiometranscriptomicswhole exome sequencingwhole genome sequencing
The MetaGraph Sequence Indexes dataset comprises full-text searchable index files for raw sequencing data hosted in major public repositories. These include the European Nucleotide Archive (ENA) managed by the European Bioinformatics Institute (EMBL-EBI), the Sequence Read Archive (SRA) maintained by the National Center for Biotechnology Information (NCBI), and the DNA Data Bank of Japan (DDBJ) Sequence Read Archive (DRA).All index files can be used with the MetaGraph framework for sequence search. Indexes can be jointly used for aggregated search in the cloud or can be individually downloaded...
geneticgenomiclife scienceswhole genome sequencing
This dataset includes the sequencing and assembly of a reference standard human genome (GM12878) using the MinION nanopore sequencing instrument with the R9.4 1D chemistry.
agriculturebiodiversitybioinformaticsbiologyfood securitygeneticgenomiclife scienceswhole genome sequencing
This dataset captures Sunflower's genetic diversity originating from thousands of wild, cultivated, and landrace sunflower individuals distributed across North America.The data consists of raw sequences and associated botanical metadata, aligned sequences (to three different reference genomes), and sets of SNPs computed across several cohorts.
bioinformaticsgenomicgenotypingHomo sapienslife scienceslong read sequencingwhole genome sequencing
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 ...
fast5fastqgeneticgenomiclife scienceswhole genome sequencing
The 1KG-ONT-VIENNA panel comprises medium coverage ONT sequencing data for 1.019 samples from the 1000 Genomes Project collection, structural variants, and their haplotype context.
assemblybacteriabioinformaticsfastagenomiclife sciencesmicrobial genomicsshort read sequencingwhole genome sequencing
All bacterial isolate whole-genome sequencing data from INSDC, uniformly assembled, quality-controlled, annotated, and searchable.
amazon.sciencebioinformaticsfastqgeneticgenomiclife scienceslong read sequencingshort read sequencingwhole exome sequencingwhole genome sequencing
To facilitate benchmarking and development, the Google Brain group has sequenced 9 human samples covering the Genome in a Bottle truth sets on different sequencing instruments, sequencing modalities (Illumina short read and Pacific BioSciences long read), sample preparation protocols, and for whole genome and whole exome capture. The original source of these data are gs://google-brain-genomics-public.