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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.
- About
About - gnomAD
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Help - gnomAD
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The Genome Aggregation Database (gnomAD) is a resource...
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Team - gnomAD
- Find Co-Occurrence of Two Variants
Find Co-Occurrence of Two Variants - gnomAD
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Enst00000302118 - gnomAD
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Nov 1, 2023 · gnomAD v4.0 includes data from 807,162 individuals, with exome and genome sequencing data from 730,947 and 76,215 individuals, respectively. Learn about the updates, features, and quality control of gnomAD v4.0, and how to access the data and annotations.
- Alignment and Variant QC
- Sample QC Process
- Variant QC
- Acknowledgments
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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 is a large-scale project that compiles exome and genome sequencing data from diverse populations. Learn about the data release, browser, QC, and usage notes of gnomAD.
gnomAD aggregates and analyses whole genomes and exomes from diverse populations to catalogue and understand the types and effects of genetic variation. The database and its papers provide insights into disease biology, drug targets, and population genetics.
gnomAD is a project that collects and harmonizes exome and genome sequencing data from various studies and makes them available for the scientific community. Learn about the data sets, the processing pipelines, the contributors, and the citation information.
May 27, 2020 · A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map...
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Jun 2, 2020 · In a coordinated set of seven publications, the Genome Aggregation Database (gnomAD) consortium presents a catalogue of human genetic variation on an unprecedented scale.
