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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...
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 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 gnomAD...
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 ...
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...
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.
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.
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.
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.
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.
bambiologygeneticgenomichealthlife sciencesvcf
This dataset contains alignment files and short nucleotide, copy number, repeat expansion (STR) and structural variant call files from the 1000 Genomes Project Phase 3 dataset (n=3202) using Illumina DRAGEN v3.5.7b and v3.7.6 software. The v3.7.6 dataset also includes results from joint small variant, de novo structural variant, de novo copy number variant and repeat expansion calls on 602 trio families comprised of members from the 1000 Genomes Project Phase 3 dataset, as well as DRAGEN gVCF Genotyper (v3.8.3) analysis on the entire dataset (n=3202). Improvements and new features in the v3.7...
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.
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...
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.
agriculturefood securitygeneticgenomiclife sciences
The 3000 Rice Genome Project is an international effort to sequence the genomes of 3,024 rice varieties from 89 countries.
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...
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...
bioinformaticsbiologygeneticgenomichealthlife sciencesproteinreference indextranscriptomics
A centralized repository of pre-formatted BLAST databases created by the National Center for Biotechnology Information (NCBI).
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 ...
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.
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.
geneticgenome wide association studygenomiclife sciencespopulation genetics
Linkage disequilibrium (LD) matrices of UK Biobank participants of a British ancestry, based on imputed genotypes.
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.
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...
bioinformaticsbiologycancergeneticgenomicHomo sapienslife sciencesreference index
Broad maintained human genome reference builds hg19/hg38 and decoy references.
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...
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.
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 ...
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...
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.
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...
biotech blueprintchemistrygeneticgenomiclife sciencesmoleculeparquet
This a parquet representation of The Binding Database's Full BindingDB Database Dump that you can query straight from Athena in under 60 seconds (no Oracle database required). The Binding Database projects aims to make experimental data on the noncovalent association of molecules in solution searchable via the world wide web. The initial focus is on biomolecular systems, but data on host-guest and supramolecular systems are also important and being included over time. It is expected that the enhanced access to data provided by this resource will facilitate drug-discovery, the design of sel...
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...
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.
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...
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.
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/).
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.
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".
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.
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.
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.
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...
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...
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).
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...
cramfast5fastqgeneticgenomiclife sciences
This dataset includes sequencing data, assemblies, and analyses for the offspring of ten parent-offspring trios.
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.
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.
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.
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...
biologyencyclopedicgenomichealthlife sciencesmedicinesingle-cell transcriptomics
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...
biologyencyclopedicgeneticgenomichealthlife sciencesmedicinesingle-cell transcriptomics
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 PolicyOur 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...
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).
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.
biodiversitybiologyconservationgeneticgenomiclife sciencestranscriptomicswildlife
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.
biodiversitybioinformaticsbiologyconservationgeneticgenomiclife sciences
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.
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.
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.
bioinformaticsbiologygeneticgenomiclife sciences
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...
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.
biotech blueprintchemistrygenomiclife sciencesmoleculeparquet
ChEMBL is a manually curated database of bioactive molecules with drug-like properties. It brings together chemical, bioactivity and genomic data to aid the translation of genomic information into effective new drugs. This representation of ChEMBL is stored in Parquet format and most easily utilized through Amazon Athena. Follow the documentation for install instructions (< 2 minute install). New ChEMBL releases occur sporadically; the most up to date information on ChEMBL releases can be found here.
biotech blueprintchemistrygeneticgenomiclife sciencesparquet
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported acc...
biotech blueprintchemistrygeneticgenomiclife sciencesmoleculeparquet
This a Parquet representation of the Open Targets Platform's latest export. The Open Targets Platform integrates evidence from genetics, genomics, transcriptomics, drugs, animal models and scientific literature to score and rank target-disease associations for drug target identification. The Open Targets Platform (https://www.targetvalidation.org) is a freely available resource for the integration of genetics, genomics, and chemical data to aid systematic drug target identification and prioritisation. This dataset is 'Lakehouse Ready'. Meaning, you can query this data in-place straight out of the Registry of Open Data S3 bucket. Deploy this dataset's corresponding CloudFormation template to create the AWS Glue catalog entries into your account in about 30 seconds. That one step will enable you to write SQL with AWS Athena, build dashboards and charts with Amazon Quick...
bioinformaticsbiologygeneticgenomicHomo sapienslife sciencesparquetpopulation geneticsvcf
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. There were a total of 3202 individuals sequenced as part of Phase 3 of this project. The high coverage samples were processed using the Illumina DRAGEN v3.5.7b pipeline and are available at s3://1000genomes-dragen/. This dataset contains the VCFs transformed to Parquet/ORC in 3 different schemas - partitioned by samples, partitioned by chromosome and a nested data format. These representations ...
agricultureamazon.sciencebiologyCaenorhabditis elegansDanio reriogeneticgenomicHomo sapienslife sciencesMus musculusRattus norvegicusreference index
Common reference genomes hosted on AWS S3. Can be used when aligning and analysing raw DNA sequencing data.
bioinformaticsbiologybiotech blueprintgeneticgenomiclife sciencesparquetpopulation geneticsvcfwhole 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 Sign up for the gnomAD mailing list here. This dataset was derived from summary data from gnomAD release 3.1, ava...
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.