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This registry exists to help people discover and share datasets that are available via AWS resources. See recent additions and learn more about sharing data on AWS.

See all usage examples for datasets listed in this registry tagged with genomic.


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The Cancer Genome Atlas

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...

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Therapeutically Applicable Research to Generate Effective Treatments (TARGET)

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...

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

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...

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Gabriella Miller Kids First Pediatric Research Program (Kids First)

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...

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Genome Aggregation Database (gnomAD)

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...

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The Singapore Nanopore Expression Data Set

bambioinformaticsfast5fastafastqgenomiclife scienceslong read sequencingshort read sequencingtranscriptomics

The Singapore Nanopore Expression (SG-NEx) project is an international collaboration to generate reference transcriptomes and a comprehensive benchmark data set for long read Nanopore RNA-Seq. Transcriptome profiling is done using PCR-cDNA sequencing (PCR-cDNA), amplification-free cDNA sequencing (direct cDNA), direct sequencing of native RNA (direct RNA), and short read RNA-Seq. The SG-NEx core data includes 5 of the most commonly used cell lines and it is extended with additional cell lines and samples that cover a broad range of human tissues. All core samples are sequenced with at least 3 ...

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Garvan Institute Long Read Sequencing Benchmark Data

bioinformaticsgenomiclife scienceslong read sequencing

The dataset contains reference samples that will be useful for benchmarking and comparing bioinformatics tools for genome analysis. Currently, there are two samples, which are NA12878 (HG001) and NA24385 (HG002), sequenced on an Oxford Nanopore Technologies (ONT) PromethION using the latest R10.4.1 flowcells. Raw signal data output by the sequencer is provided for these datasets in BLOW5 format, and can be rebasecalled when basecalling software updates bring accuracy and feature improvements over the years. Raw signal data is not only for rebasecalling, but also can be used for emerging bioinf...

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PubSeq - Public Sequence Resource

bambioinformaticsbiologycoronavirusCOVID-19fast5fastafastqgeneticgenomichealthjsonlife scienceslong read sequencingmedicineMERSmetadataopen source softwareRDFSARSSARS-CoV-2SPARQL

COVID-19 PubSeq is a free and open online bioinformatics public sequence resource with on-the-fly analysis of sequenced SARS-CoV-2 samples that allows for a quick turnaround in identification of new virus strains. PubSeq allows anyone to upload sequence material in the form of FASTA or FASTQ files with accompanying metadata through the web interface or REST API.

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Cancer Cell Line Encyclopedia (CCLE)

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.

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Toxicant Exposures and Responses by Genomic and Epigenomic Regulators of Transcription (TaRGET)

bioinformaticsbiologyenvironmentalepigenomicsgeneticgenomiclife sciences

The TaRGET (Toxicant Exposures and Responses by Genomic and Epigenomic Regulators of Transcription) Program is a research consortium funded by the National Institute of Environmental Health Sciences (NIEHS). The goal of the collaboration is to address the role of environmental exposures in disease pathogenesis as a function of epigenome perturbation, including understanding the environmental control of epigenetic mechanisms and assessing the utility of surrogate tissue analysis in mouse models of disease-relevant environmental exposures.

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Clinical Proteomic Tumor Analysis Consortium 2 (CPTAC-2)

cancergenomiclife sciencesSTRIDEStranscriptomics

The Clinical Proteomic Tumor Analysis Consortium (CPTAC) is a national effort to accelerate the understanding of the molecular basis of cancer through the application of large-scale proteome and genome analysis, or proteogenomics. CPTAC-2 is the Phase II of the CPTAC Initiative (2011-2016). Datasets contain open RNA-Seq Gene Expression Quantification, miRNA-Seq Isoform Expression Quantification, and miRNA Expression Quantification data.

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ICGC on AWS

bamcancergeneticgenomiclife sciencesvcf

The International Cancer Genome Consortium (ICGC) coordinates projects with the common aim of accelerating research into the causes and control of cancer. The PanCancer Analysis of Whole Genomes (PCAWG) study is an international collaboration to identify common patterns of mutation in whole genomes from ICGC. More than 2,400 consistently analyzed genomes corresponding to over 1,100 unique ICGC donors are now freely available on Amazon S3 to credentialed researchers subject to ICGC data sharing policies.

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Clinical Proteomic Tumor Analysis Consortium 3 (CPTAC-3)

cancergenomiclife sciencesSTRIDEStranscriptomics

The Clinical Proteomic Tumor Analysis Consortium (CPTAC) is a national effort to accelerate the understanding of the molecular basis of cancer through the application of large-scale proteome and genome analysis, or proteogenomics. CPTAC-3 is the Phase III of the CPTAC Initiative. The dataset contains open RNA-Seq Gene Expression Quantification data.

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Open Bioinformatics Reference Data for Galaxy

bioinformaticsbiologygeneticgenomiclife sciencesreference index

This dataset provides genomic reference data and software packages for use with Galaxy and Bioconductor applications. The reference data is available for hundreds of reference genomes and has been formatted for use with a variety of tools. The available configuration files make this data easily incorporable with a local Galaxy server without additional data preparation. Additionally, Bioconductor's AnnotationHub and ExperimentHub data are provided for use via R packag...

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Serratus: Ultra-deep Search for Novel Viruses - Versioned Data Release

bamCOVID-19geneticgenomiclife sciencesMERSSARSSARS-CoV-2virus

Serratus is a collaborative open science project for ultra-rapid discovery of known and unknown coronaviruses in response to the COVID-19 pandemic through re-analysis of publicly available genomic data. Our resulting vertebrate viral alignment data is explorable via the Serratus Explorer and directly accessible on Amazon S3.

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3000 Rice Genomes Project

agriculturefood securitygeneticgenomiclife sciences

The 3000 Rice Genome Project is an international effort to sequence the genomes of 3,024 rice varieties from 89 countries.

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CoMMpass from the Multiple Myeloma Research Foundation

cancergeneticgenomicSTRIDESwhole 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...

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Logan Unitigs and Contigs of the Sequence Read Archive (SRA) on AWS

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 real of genome assembly, unitigs preserve nearl...

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NIH NCBI Sequence Read Archive (SRA) on AWS

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...

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Basic Local Alignment Sequences Tool (BLAST) Databases

bioinformaticsbiologygeneticgenomichealthlife sciencesproteinreference indextranscriptomics

A centralized repository of pre-formatted BLAST databases created by the National Center for Biotechnology Information (NCBI).

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Encyclopedia of DNA Elements (ENCODE)

bioinformaticsbiologygeneticgenomiclife sciences

The Encyclopedia of DNA Elements (ENCODE) Consortium is an international collaboration of research groups funded by the National Human Genome Research Institute (NHGRI). The goal of ENCODE is to build a comprehensive parts list of functional elements in the human genome, including elements that act at the protein and RNA levels, and regulatory elements that control cells and circumstances in which a gene is active. ENCODE investigators employ a variety of assays and methods to identify functional elements. The discovery and annotation of gene elements is accomplished primarily by sequencing a ...

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Genome in a Bottle on AWS

geneticgenomiclife sciencesreference indexvcf

Several reference genomes to enable translation of whole human genome sequencing to clinical practice. On 11/12/2020 these data were updated to reflect the most up to date GIAB release.

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Molecular Profiling to Predict Response to Treatment (phs001965)

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...

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Refgenie reference genome assets

bioinformaticsbiologygeneticgenomicinfrastructurelife sciencessingle-cell transcriptomicstranscriptomicswhole genome sequencing

Pre-built refgenie reference genome data assets used for aligning and analyzing DNA sequence data.

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UK Biobank Linkage Disequilibrium Matrices

geneticgenome wide association studygenomiclife sciencespopulation genetics

Linkage disequilibrium (LD) matrices of UK Biobank participants of a British ancestry, based on imputed genotypes.

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UK Biobank Pan-Ancestry Summary Statistics

geneticgenome wide association studygenomiclife sciencespopulation genetics

A multi-ancestry analysis of 7,221 phenotypes using a generalized mixed model association testing framework, spanning 16,119 genome-wide association studies. We provide standard meta-analysis across all populations and with a leave-one-population-out approach for each trait. The data are provided in tsv format (per phenotype) and Hail MatrixTable (all phenotypes and variants). Metadata is provided in phenotype and variant manifests.

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Beat Acute Myeloid Leukemia (AML) 1.0

cancergeneticgenomicHomo sapienslife sciencesSTRIDES

Beat AML 1.0 is a collaborative research program involving 11 academic medical centers who worked collectively to better understand drugs and drug combinations that should be prioritized for further development within clinical and/or molecular subsets of acute myeloid leukemia (AML) patients. Beat AML 1.0 provides the largest-to-date dataset on primary acute myeloid leukemia samples offering genomic, clinical, and drug response.This dataset contains open Clinical Supplement and RNA-Seq Gene Expression Quantification data.This dataset also contains controlled Whole Exome Sequencing (WXS) and R...

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Broad Genome References

bioinformaticsbiologycancergeneticgenomicHomo sapienslife sciencesreference index

Broad maintained human genome reference builds hg19/hg38 and decoy references.

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Clinical Trial Sequencing Project - Diffuse Large B-Cell Lymphoma

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.

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  • Genomic Data Commons by National Cancer Institute
  • Genetics and Pathogenesis of Diffuse Large B Cell Lymphoma by Roland Schmitz, Ph.D., George W. Wright, Ph.D., Da Wei Huang, M.D., Calvin A. Johnson, Ph.D., James D. Phelan, Ph.D., James Q. Wang, Ph.D., Sandrine Roulland, Ph.D., Monica Kasbekar, Ph.D., Ryan M. Young, Ph.D., Arthur L. Shaffer, Ph.D., Daniel J. Hodson, M.D., Ph.D., Wenming Xiao, Ph.D., et al.
  • A multiprotein supercomplex controlling oncogenic signalling in lymphoma by Phelan JD, Young RM, Webster DE, Roulland S, Wright GW, Kasbekar M, Shaffer AL 3rd, Ceribelli M, Wang JQ, Schmitz R, Nakagawa M, Bachy E, Huang DW, Ji Y, Chen L, Yang Y, Zhao H, Yu X, Xu W, Palisoc MM, Valadez RR, Davies-Hill T, Wilson WH, Chan WC, Jaffe ES, Gascoyne RD, Campo E, Rosenwald A, Ott G, Delabie J, Rimsza LM, Rodriguez FJ, Estephan F, Holdhoff M, Kruhlak MJ, Hewitt SM, Thomas CJ, Pittaluga S, Oellerich T, Staudt LM

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Exceptional Responders Initiative

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...

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Foundation Medicine Adult Cancer Clinical Dataset (FM-AD)

cancergenomic

The Foundation Medicine Adult Cancer Clinical Dataset (FM-AD) is a study conducted by Foundation Medicine Inc (FMI). Genomic profiling data for approximately 18,000 adult patients with a diverse array of cancers was generated using FoundationeOne, FMI's commercially available, comprehensive genomic profiling assay. This dataset contains open Clinical and Biospecimen data.

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NASA Space Biology Open Science Data Repository (OSDR)

bioinformaticsbiologyGeneLabgenomicimaginglife sciencesspace biology

NASA’s Space Biology Open Science Data Repository (OSDR) introduces a one-stop site where users can explore and contribute a variety of NASA open science biological data. This site consolidates data from the Ames Life Sciences Data Archive (ALSDA) and GeneLab and includes information about the broader NASA Open Science and Open Data initiatives, all at one centralized location. Our mission is to maximize the utilization of the valuable biological research resources and enable new discoveries.

OSDR introduces access to data generated from spaceflight and space relevant experiments that explore
...

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The Human Microbiome Project

amino acidfastafastqgeneticgenomiclife sciencesmetagenomicsmicrobiome

The NIH-funded Human Microbiome Project (HMP) is a collaborative effort of over 300 scientists from more than 80 organizations to comprehensively characterize the microbial communities inhabiting the human body and elucidate their role in human health and disease. To accomplish this task, microbial community samples were isolated from a cohort of 300 healthy adult human subjects at 18 specific sites within five regions of the body (oral cavity, airways, urogenital track, skin, and gut). Targeted sequencing of the 16S bacterial marker gene and/or whole metagenome shotgun sequencing was performe...

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Variant Effect Predictor (VEP) and the Loss-Of-Function Transcript Effect Estimator (LOFTEE) Plugin

genome wide association studygenomiclife scienceslofteevep

VEP determines the effect of genetic variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. The European Bioinformatics Institute produces the VEP tool/db and releases updates every 1 - 6 months. The latest release contains 267 genomes from 232 species containing 5567663 protein coding genes. This dataset hosts the last 5 releases for human, rat, and zebrafish. Also, it hosts the required reference files for the Loss-Of-Function Transcript Effect Estimator (LOFTEE) plugin as it is commonly used with VEP.

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4D Nucleome (4DN)

bioinformaticsbiologygeneticgenomicimaginglife sciences

The goal of the National Institutes of Health (NIH) Common Fund’s 4D Nucleome (4DN) program is to study the three-dimensional organization of the nucleus in space and time (the 4th dimension). The nucleus of a cell contains DNA, the genetic “blueprint” that encodes all of the genes a living organism uses to produce proteins needed to carry out life-sustaining cellular functions. Understanding the conformation of the nuclear DNA and how it is maintained or changes in response to environmental and cellular cues over time will provide insights into basic biology as well as aspects of human health...

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Cancer Genome Characterization Initiatives - Burkitt Lymphoma, HIV+ Cervical Cancer

cancergenomiclife sciencesSTRIDEStranscriptomics

The Cancer Genome Characterization Initiatives (CGCI) program supports cutting-edge genomics research of adult and pediatric cancers. CGCI investigators develop and apply advanced sequencing methods that examine genomes, exomes, and transcriptomes within various types of tumors. The program includes Burkitt Lymphoma Genome Sequencing Project (BLGSP) project and HIV+ Tumor Molecular Characterization Project - Cervical Cancer (HTMCP-CC) project. The dataset contains open Clinical Supplement, Biospecimen Supplement, RNA-Seq Gene Expression Quantification, miRNA-Seq Isoform Expression Quantificati...

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Cloud Indexes for Bowtie, Kraken, HISAT, and Centrifuge

bioinformaticsbiologygenomicmappingmedicinereference 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.

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DNAStack COVID19 SRA 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...

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GATK Structural Variation (SV) Data

bioinformaticsbiologycromwellgatk-svgeneticgenomiclife sciencesstructural variation

This dataset holds the data needed to run a structural variation discovery pipeline for Illumina short-read whole-genome sequencing (WGS) data in AWS.

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Genomic Characterization of Metastatic Castration Resistant Prostate Cancer

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.

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Indexes for Kaiju

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.

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Integrative Analysis of Lung Adenocarcinoma in Environment and Genetics Lung cancer Etiology (Phase 2)

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/).

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National Cancer Institute Center for Cancer Research - Diffuse Large B Cell Lymphoma (DLBCL) Genomics and Expression

cancergenomic

The study describes integrative analysis of genetic lesions in 574 diffuse large B cell lymphomas (DLBCL) involving exome and transcriptome sequencing, array-based DNA copy number analysis and targeted amplicon resequencing. The dataset contains open RNA-Seq Gene Expression Quantification data.

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OpenCRAVAT

geneticgenomiclife sciencessqlitetertiary analysisvariant annotation

OpenCRAVAT is a module variant annotation tool developed by KarchinLab at Johns Hopkins. This dataset is a mirror of the OpenCRAVAT store available at https://store.opencravat.org. You can configure OpenCRAVAT to use this mirror by editing the "cravat-system.yml" file. The path to this file is in the first output line of the command "oc config system". In that file, change the value of "store_url" to "https://opencravat-store-aws.s3.amazonaws.com".

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Oregon Health & Science University Chronic Neutrophilic Leukemia Dataset

cancergenomiclife sciences

The OHSU-CNL study offers the whole exome and RNA-sequencing on a cohort of 100 cases with rare hematologic malignancies such as Chronic neutrophilic leukemia (CNL), atypical chronic myeloid leukemia (aCML), and unclassified myelodysplastic syndrome/myeloproliferative neoplasms (MDS/MPN-U). This dataset contains open RNA-Seq Gene Expression Quantification data.

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Pancreatic Cancer Organoid Profiling

cancergeneticgenomicSTRIDEStranscriptomicswhole 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.

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1000 Genomes

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.

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CIViC (Clinical Interpretation of Variants in Cancer)

geneticgenomiclife sciencesvcf

Precision medicine refers to the use of prevention and treatment strategies that are tailored to the unique features of each individual and their disease. In the context of cancer this might involve the identification of specific mutations shown to predict response to a targeted therapy. The biomedical literature describing these associations is large and growing rapidly. Currently these interpretations exist largely in private or encumbered databases resulting in extensive repetition of effort. Realizing precision medicine will require this information to be centralized, debated and interpret...

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COVID-19 Genome Sequence Dataset

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...

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GATK Test Data

bioinformaticsbiologycancergeneticgenomiclife sciences

The GATK test data resource bundle is a collection of files for resequencing human genomic data with the Broad Institute's Genome Analysis Toolkit (GATK).

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Human Cancer Models Initiative (HCMI) Cancer Model Development Center

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...

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Human PanGenomics Project

cramfast5fastqgeneticgenomiclife sciences

This dataset includes sequencing data, assemblies, and analyses for the offspring of ten parent-offspring trios.

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Oxford Nanopore Technologies Benchmark Datasets

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.

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QIIME 2 User Tutorial Datasets

bioinformaticsbiologydenoisingecosystemsenvironmentalgeneticgenomichealthmicrobiomestatistics

QIIME 2 is a powerful, extensible, and decentralized microbiome analysis package with a focus on data and analysis transparency. QIIME 2 enables researchers to start an analysis with raw DNA sequence data and finish with publication-quality figures and statistical results. This dataset contains the user docs (and related datasets) for QIIME 2.

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Synthea Coherent Data Set

bioinformaticscsvdicomgenomichealthimaginglife sciencesmedicine

This is a synthetic data set that includes FHIR resources, DICOM images, genomic data, physiological data (i.e., ECGs), and simple clinical notes. FHIR links all the data types together.

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Tabula Muris

biologyencyclopedicgenomichealthlife sciencesmedicine

Tabula Muris is a compendium of single cell transcriptomic data from the model organism Mus musculus comprising more than 100,000 cells from 20 organs and tissues. These data represent a new resource for cell biology, reveal gene expression in poorly characterized cell populations, and allow for direct and controlled comparison of gene expression in cell types shared between tissues, such as T-lymphocytes and endothelial cells from different anatomical locations. Two distinct technical approaches were used for most organs: one approach, microfluidic droplet-based 3’-end counting, enabled the s...

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Tabula Muris Senis

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Tabula Muris Senis is a comprehensive compendium of single cell transcriptomic data from the model organism Mus musculus comprising more than 500,000 cells from 18 organs and tissues across the mouse lifespan. We discovered cell-specific changes occurring across multiple cell types and organs, as well as age related changes in the cellular composition of different organs. Using single-cell transcriptomic data we were able to assess cell type specific manifestations of different hallmarks of aging, such as senescence, changes in the activity of metabolic pathways, depletion of stem-cell populat...

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Tabula Sapiens

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Tabula Sapiens will be a benchmark, first-draft human cell atlas of two million cells from 25 organs of eight normal human subjects. Taking the organs from the same individual controls for genetic background, age, environment, and epigenetic effects, and allows detailed analysis and comparison of cell types that are shared between tissues. Our work creates a detailed portrait of cell types as well as their distribution and variation in gene expression across tissues and within the endothelial, epithelial, stromal and immune compartments. A critical factor in the Tabula projects is our large collaborative network of PI’s with deep expertise at preparation of diverse organs, enabling all organs from a subject to be successfully processed within a single day. Tabula Sapiens leverages our network of human tissue experts and a close collaboration with a Donor Network West, a not-for-profit organ procurement organization. We use their experience to balance and assign cell types from each tissue compartment and optimally mix high-quality plate-seq data and high-volume droplet-based data to provide a broad and deep benchmark atlas. Our goal is to make sequence data rapidly and broadly available to the scientific community as a community resource. Before you use our data, please take note of our Data Release Policy below.

Data Release Policy

Our goal is to make sequence data rapidly and broadly available to the scientific community as a community resource. It is our intention to publish the work of this project in a timely fashion, and we welcome collaborative interaction on the project and analyses. However, considerable investment was made in generating these data and we ask that you respect rights of first publication and acknowledgment as outlined in the Toronto agreement. By accessing these data, you agree not to publish any articles containing analyses of genes, cell types or transcriptomic data on a who...

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iHART Whole Genome Sequencing Data Set

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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).

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recount3

bioinformaticsbiologycancercsvgene expressiongeneticgenomicHomo sapienslife sciencesMus musculusneurosciencetranscriptomics

recount3 is an online resource consisting of RNA-seq gene, exon, and exon-exon junction counts as well as coverage bigWig files for 8,679 and 10,088 different studies for human and mouse respectively. It is the third generation of the ReCount project and part of recount.bio. recount2 is also included for historical purposes. The pipeline used to generate the data in recount3 (but not recount2) is available here.

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Australasian Genomes

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Australasian Genomes is the genomic data repository for the Threatened Species Initiative (TSI) and the ARC Centre for Innovations in Peptide and Protein Science (CIPPS). This repository contains reference genomes, transcriptomes, resequenced genomes and reduced representation sequencing data from Australasian species. Australasian Genomes is managed by the Australasian Wildlife Genomics Group (AWGG) at the University of Sydney on behalf of our collaborators within TSI and CIPPS.

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Genome Ark

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The Genome Ark hosts genomic information for the Vertebrate Genomes Project (VGP) and other related projects. The VGP is an international collaboration that aims to generate complete and near error-free reference genomes for all extant vertebrate species. These genomes will be used to address fundamental questions in biology and disease, to identify species most genetically at risk for extinction, and to preserve genetic information of life.

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Nanopore Reference Human Genome

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.

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The Genome Modeling System

geneticgenomiclife sciences

The Genome Institute at Washington University has developed a high-throughput, fault-tolerant analysis information management system called the Genome Modeling System (GMS), capable of executing complex, interdependent, and automated genome analysis pipelines at a massive scale. The GMS framework provides detailed tracking of samples and data coupled with reliable and repeatable analysis pipelines. GMS includes a full system image with software and services, expandable from one workstation to a large compute cluster.

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UCSC Genome Browser Sequence and Annotations

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The UCSC Genome Browser is an online graphical viewer for genomes, a genome browser, hosted by the University of California, Santa Cruz (UCSC). The interactive website offers access to genome sequence data from a variety of vertebrate and invertebrate species and major model organisms, integrated with a large collection of aligned annotations. This dataset is a copy of the MySQL tables in MyISAM binary and tab-sep format and all binary files in custom formats, sometimes referred as 'gbdb'-files. Data from the UCSC Genome Browser is free and open for use by anyone. However, every genome...

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University of British Columbia Sunflower Genome Dataset

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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.

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AWS iGenomes

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Common reference genomes hosted on AWS S3. Can be used when aligning and analysing raw DNA sequencing data.

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Google Brain Genomics Sequencing Dataset for Benchmarking and Development

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.

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