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| Resource Name | Proper Citation | Abbreviations | Resource Type |
Description |
Keywords | Resource Relationships | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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ExAc Resource Report Resource Website 1000+ mentions |
ExAc (RRID:SCR_004068) | ExAC | data or information resource, database | THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 9, 2023. An aggregated data platform for genome sequencing data created by a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data set provided on this website spans 61,486 unrelated individuals sequenced as part of various disease-specific and population genetic studies. They have removed individuals affected by severe pediatric disease, so this data set should serve as a useful reference set of allele frequencies for severe disease studies. All of the raw data from these projects have been reprocessed through the same pipeline, and jointly variant-called to increase consistency across projects. They ask that you not publish global (genome-wide) analyses of these data until after the ExAC flagship paper has been published, estimated to be in early 2015. If you''re uncertain which category your analyses fall into, please email them. The aggregation and release of summary data from the exomes collected by the Exome Aggregation Consortium has been approved by the Partners IRB (protocol 2013P001477, Genomic approaches to gene discovery in rare neuromuscular diseases). | exome sequencing, exome, sequencing, variant, grch37/hg19, gene, region, transcript, multi-allelic variant, FASEB list |
uses: dbSNP has parent organization: Broad Institute |
PMID:27899611 | THIS RESOURCE IS NO LONGER IN SERVICE | nlx_158505, r3d100010468 | https://doi.org/10.17616/R3QP53 | SCR_004068 | Exome Aggregation Consortium, ExAC Browser | 2026-08-03 09:32:21 | 4800 | |||||
|
Broad Institute Resource Report Resource Website 1000+ mentions |
Broad Institute (RRID:SCR_007073) | Broad | institution | Biomedical and genomic research center located in Cambridge, Massachusetts, United States. Nonprofit research organization under the name Broad Institute Inc., and is partners with Massachusetts Institute of Technology, Harvard University, and the five Harvard teaching hospitals. Dedicated to advance understanding of biology and treatment of human disease to improve human health. | biomedical, genomic, research, center, nonprofit, organization, human, biology, disease |
is affiliated with: Massachusetts Institute of Technology; Massachusetts; USA; is affiliated with: Harvard University; Cambridge; United States is affiliated with: Integrative Human Microbiome Project is affiliated with: MIT; Cambridge; Massachusetts; United States is related to: LINCS Information Framework is related to: HMS LINCS Database is related to: Cancer Cell Line Encyclopedia is related to: GO2MSIG is parent organization of: ARACHNE is parent organization of: MuTect is parent organization of: SiPhy is parent organization of: ContEst is parent organization of: Broad Minded is parent organization of: JBrowse is parent organization of: Birdseed is parent organization of: VAAL is parent organization of: SomaticCall is parent organization of: BIRDSUITE is parent organization of: GATK is parent organization of: SNAP - SNP Annotation and Proxy Search is parent organization of: SYZYGY is parent organization of: Genetic Maps of the Rat Genome is parent organization of: LINCS Connectivity Map is parent organization of: Classification of Human Lung Carcinomas by mRNA Expression Profiling Reveals Distinct Adenocarcinoma Sub-classes is parent organization of: Haploview is parent organization of: Magnaporthe comparative Database is parent organization of: GeneCruiser is parent organization of: Fungal Genome Initiative is parent organization of: Gene Set Enrichment Analysis is parent organization of: GenePattern is parent organization of: MAGENTA is parent organization of: Multiple Myeloma Genomics Portal is parent organization of: ExAc is parent organization of: Ricopili is parent organization of: UnifiedGenotyper is parent organization of: SomaticIndelDetector is parent organization of: RNA-SeQC is parent organization of: Oncotator is parent organization of: ABSOLUTE is parent organization of: PathSeq is parent organization of: V-Phaser 2 is parent organization of: Indelocator is parent organization of: Scripture is parent organization of: VICUNA is parent organization of: Tuberculosis Database is parent organization of: HaploReg is parent organization of: CellProfiler Image Analysis Software is parent organization of: National Institute of Mental Health (NIMH) Human Genetics Initiative is parent organization of: ChemBank is parent organization of: GeneCluster 2: An Advanced Toolset for Bioarray Analysis is parent organization of: Ultrasome is parent organization of: Diabetes Genetics Initiative is parent organization of: Dog Genome Project is parent organization of: Gene Relationships Across Implicated Loci is parent organization of: InVEx is parent organization of: Broad Genetic Analysis Platform is parent organization of: CellProfiler Analyst is parent organization of: ALLPATHS-LG is parent organization of: MutSig is parent organization of: SegSeq is parent organization of: Argo Genome Browser is parent organization of: Integrative Genomics Viewer is parent organization of: MEDEA is parent organization of: Pathline is parent organization of: ASPGD is parent organization of: DGAP is parent organization of: BARD is parent organization of: 1000 Genomes: A Deep Catalog of Human Genetic Variation is parent organization of: Trinity is parent organization of: Genome Aggregation Database is parent organization of: GenomeSpace is parent organization of: Picard is parent organization of: Connectivity Map 02 is parent organization of: CMap is parent organization of: IndelGenotyper is parent organization of: Discovar assembler is parent organization of: Molecular Signatures Database is parent organization of: GSEA is parent organization of: Eagle is parent organization of: Morpheus by Broad Institute is parent organization of: Cancer Dependency Map Portal is parent organization of: LIGER is parent organization of: Drop-seq tools is parent organization of: scATAC Pipeline is parent organization of: Guide Design Resources is parent organization of: Smart-seq2 Single Sample Pipeline is parent organization of: Smart-seq2 Single Nucleus Multi Sample Pipeline is parent organization of: Broad Terra cloud commons for pathogen surveillance is parent organization of: Single Cell Portal is parent organization of: CEMBA MethylC Seq Pipeline is parent organization of: Pegasus is parent organization of: Cumulus is parent organization of: Cirrocumulus is parent organization of: BICCN Anatomy and Morphology Project is parent organization of: Terra is parent organization of: JUMP Cell Painting Consortium is parent organization of: Spectrum Mill is parent organization of: Polysolver is parent organization of: Brain Cell Data Viewer is parent organization of: Eagle is parent organization of: Broad Institute Imaging Platform Core Facility is parent organization of: ATAC Pipeline is parent organization of: ichorCNA is parent organization of: CRISPick is parent organization of: FireBrowse is parent organization of: Cellarium is parent organization of: multiVIB is parent organization of: SlideTags.wdl is parent organization of: Slide-seq Pipeline is parent organization of: BuildIndices is parent organization of: Broad Institute Genomics Platform has organization facet: GATK HaplotypeCaller has organization facet: GATK VariantFiltration |
Eli and Edythe Broad ; individual donors |
nif-0000-31438, grid.66859.34, Wikidata: Q4971893 | https://ror.org/05a0ya142 | SCR_007073 | Broad Institute of MIT and Harvard, Broad Institute Inc. | 2026-08-01 12:03:27 | 1897 | ||||||
|
dbSNP Resource Report Resource Website 5000+ mentions |
dbSNP (RRID:SCR_002338) | dbSNP | data repository, data or information resource, database, storage service resource, service resource | Database as central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms. Distinguishes report of how to assay SNP from use of that SNP with individuals and populations. This separation simplifies some issues of data representation. However, these initial reports describing how to assay SNP will often be accompanied by SNP experiments measuring allele occurrence in individuals and populations. Community can contribute to this resource. | insertion, polymorphism, short, deletion, single, nucleotide, genetic, variation, genomics, genotype, disease, allele, microsatellite, marker, multinucleotide, heterozygous, sequence, gold standard, bio.tools |
is used by: ExAc is used by: GEMINI is recommended by: National Library of Medicine is recommended by: NIDDK Information Network (dkNET) is recommended by: NIDDK - National Institute of Diabetes and Digestive and Kidney Diseases is listed by: OMICtools is listed by: re3data.org is listed by: bio.tools is listed by: Debian is related to: Ensembl Variation is related to: GWAS Central is related to: TopoSNP is related to: GWAS Central has parent organization: NCBI has parent organization: National Human Genome Research Institute works with: Open Regulatory Annotation Database |
NLM | PMID:21154707 | Free, Freely available | nif-0000-02734, biotools:dbsnp, OMICS_00264, r3d100010652 | http://www.ncbi.nlm.nih.gov/projects/SNP/, https://bio.tools/dbsnp, https://doi.org/10.17616/R3XG81 | SCR_002338 | dbSNP: Database for Short Genetic Variations, Entrez SNP - Single Nucleotide Polymorphism, SNV Database, NCBI SNV Database, NCBI Short Genetic Variations Database, NCBI Short Genetic Variations, NCBI Single Nucleotide Polymorphism, Entrez SNP, dbSNP, NCBI Short Genetic Variations (SNV) database | 2026-08-03 09:31:39 | 8619 |
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