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bambioinformaticsbiologycramgeneticgenomicgenotypinglife sciencesmachine learningpopulation geneticsshort read sequencingstructural variationtertiary analysisvariant annotationwhole genome sequencing
Overview
This dataset contains alignment files and small variant (includes single nucleotide variants (SNV) and indels), copy number variant (CNV), short tandem repeat (i.e., repeat expansion; STR), structural variant (SV) and other variant call files from the 1000 Genomes Project (1KGP) Phase 3 dataset (3,202 individuals, 602 trios) using Illumina DRAGEN v3.5.7b, v3.7.6, v4.0.3, v4.2.7, and v4.4.7 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 infor
...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 ...
bambioinformaticsbiologycancergeneticgenomicHomo sapienslife sciencesshort read sequencingtranscriptomicswhole exome sequencingwhole genome sequencing
This dataset consists of whole genome sequencing (WGS), whole exome sequencing (WES), and RNA sequencing files generated from ~1000 cancer cell lines described in Ghandi et al., 2019.
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.
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.
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.
bambioinformaticsbiologyCaenorhabditis elegansfastqgatk-svgenetic mapsgenomegenome wide association studygenomiclife sciencesshort read sequencingvariant annotationvcf
The Caenorhabditis Natural Diversity Resource (CaeNDR) is a data repository and analysis hub of wild strains of selfing Caenhorabditis species C. elegans, C. briggsae, and C. tropicalis from around the world to facilitate discovery of genetic variation across all three species through genome-wide association mappings to correlate genotype with phenotype and identify genetic variation underlying quantitative traits.
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...
bambenchmarkbioinformaticsepigenomicsgenomiclife scienceslong read sequencing
ONT Methylation Benchmarking Datasets are generated to benchmark existing methylation-calling tools on the Oxford Nanopore sequencing platform using their recent R10.4.1 flowcell chemistry. It spans a diverse range of species, including bacteria (E. coli, H. pylori J99, H. pylori 26695, A. variabilis, T. denticola), plants (Rice, Arabidopsis), and mammals (mouse, human).In addition, the dataset includes EMSeq data for E. coli, plant, and mouse samples, which can serve as ground truth for methylation studies. It also provides unmethylated whole-genome amplified (WGA) DNA for H. pylori 26695 and...
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...
bambioinformaticsbiologygeneticgenomicimaginglife scienceswhole genome sequencing
The Somatic Mosaicism across Human Tissues (SMaHT) project is an NIH Common Fund consortium (2023-) aimed to comprehensively characterize somatic variation ("mosaicism") in normal human tissues. While most genetic studies have relied on blood-derived DNA, SMaHT captures the full spectrum of DNA variation across cell types, tissues, and organs from phenotypically normal individuals to better understand the role of somatic mosaicism in human development, aging, and disease progression.Researchers in the consortium develop and apply experimental and computational methods, paired with th...
bamcramfastqgeneticgenomiclife sciencestranscriptomicswhole exome sequencingwhole genome sequencing
Aging is a major risk factor for neurodegenerative diseases, yet underlying epigenetic mechanisms remain unclear. Here, we generated a comprehensive single-nucleus cell atlas of brain aging across multiple brain regions, comprising 132,551 single-cell methylomes and 72,666 joint chromatin conformation-methylome nuclei. Integration with companion transcriptomic and chromatin accessibility data yielded a cross-modality taxonomy of 36 major cell types.
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...
bambenchmarkbioinformaticscancerfastqlife scienceslong read sequencingshort read sequencingsingle-cell transcriptomicsvcf
LongBench is a comprehensive benchmark dataset of the latest long-read transcriptomics technologies from Oxford Nanopore (ON) and Pacific Biosciences, alongside a comparison with next-generation sequencing from Illumina. We generated bulk and single-cell libraries from lung cancer cell lines which include different cancer subtypes to capture real biological variation. To further compare and assess sequencing platform performance, Sequins and SIRVs (Set 4) synthetic spike-ins have been included.
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).