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The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
Nov 1, 2023 · gnomAD v4.0 includes data from 807,162 individuals, with exome and genome sequencing data aligned to GRCh38. Learn about the updates, features, and quality control of gnomAD v4.0 and how to access it on the browser or download it.
- Alignment and Variant QC
- Sample QC Process
- Variant QC
- Acknowledgments
- GeneratedCaptionsTabForHeroSec
The alignment and variant calling was performed on exomes and genomes separately using astandardized BWA-Picard pipeline on the human genome build 37, followed by joint variant callingacross each whole callset using GATK HaplotypeCaller (v3.4). Up to this point, the pipeline used isvery similar to the ExAC pipeline; however, after the variant calli...
The sample filtering process was similar to that of ExAC, where we first excluded samples based onsequencing and raw variant call quality metrics, then removed related individuals as to keep onlysamples more distant than 2nd degree relatives. From this set, we assigned ancestry and finallyexcluded samples based on raw variant call QC metrics strati...
For the variant QC process, we used the final set of high quality release samples as well asadditional family members forming trios (1,529 trios in exomes, 412 in genomes) that were filteredat the relatedness phase, in order to compute metrics such as transmission and Mendelian violations.Variant QC was performed on the exomes and genomes separatel...
Any data set of this scale requires a huge team to make it possible. We want to thank a fewspecific people here, while also acknowledging the many, many people behind the scenes at the BroadInstitute who built the infrastructure and resources to enable this work. Massive thanks, as always, to everyone who allowed their data to be used in this proje...
gnomAD browser is a web-based application that allows users to view and analyze allele frequencies and genotypes from exome and genome data of over 138,000 individuals. Learn about the features, changes, and QC of the genome aggregation database (gnomAD) and how to access the data.
JavaScript tools for exploring genomic data. To view the gnomAD browser, go to https://gnomad.broadinstitute.org. Licensed under the MIT license. See the LICENSE file. Citation. For publications on software projects using code from the gnomAD browser, we request citing the following two papers:
The data is available through the online gnomAD browser (https://gnomad.broadinstitute.org/) that enables rapid and intuitive variant analysis. This review provides guidance on the content of the gnomAD browser, and its usage for variant and gene interpretation.
gnomAD aggregates and analyses 15,708 whole genomes and 125,748 exomes from diverse populations. It provides a catalogue of genetic variants, their functional impact, and their potential applications for disease research and drug discovery.
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Please cite the gnomAD flagship paper in papers that make use of gnomAD data, and provide a link to the browser if you build online resources that include the data set. There is no need to include us as authors on your manuscript, unless we contributed specific advice or analysis for your work.
