Genome Aggregation Database (gnomAD)
@gnomad-project.bsky.social
The world's largest open resource of human genetic variation. For help please use http://broad.io/gnomad_forum; feature requests/bug reports to http://broad.io/gnomad_github
GeniE, the genetic prevalence estimator, is now available! broad.io/genie
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
June 4, 2024 at 4:44 PM
GeniE, the genetic prevalence estimator, is now available! broad.io/genie
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities:
1) Joint AN across all called sites in exomes and genomes
2) A flag indicating when exomes and genomes frequencies are highly discordant
Learn more at broad.io/gnomad_v4-1
1) Joint AN across all called sites in exomes and genomes
2) A flag indicating when exomes and genomes frequencies are highly discordant
Learn more at broad.io/gnomad_v4-1
April 19, 2024 at 11:32 PM
gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities:
1) Joint AN across all called sites in exomes and genomes
2) A flag indicating when exomes and genomes frequencies are highly discordant
Learn more at broad.io/gnomad_v4-1
1) Joint AN across all called sites in exomes and genomes
2) A flag indicating when exomes and genomes frequencies are highly discordant
Learn more at broad.io/gnomad_v4-1
The #gnomAD v3 papers are now published! This includes the non-coding constraint paper broad.io/gnomAD_v3_non_coding & inferring compound heterozygosity paper broad.io/gnomAD_v3_comp_het Congratulations to everyone who contributed to this valuable work! (1/2)
December 6, 2023 at 6:19 PM
The #gnomAD v3 papers are now published! This includes the non-coding constraint paper broad.io/gnomAD_v3_non_coding & inferring compound heterozygosity paper broad.io/gnomAD_v3_comp_het Congratulations to everyone who contributed to this valuable work! (1/2)
As part of v4, we are happy to announce the launch of the #gnomAD forum broad.io/gnomad_forum. This will be a place for our users to help each other, discuss the data and ask questions. #ASHG2023
gnomAD
A place for users of the Genome Aggregation Database to discuss the data, ask questions, and get help from eachother and the gnomAD team.
broad.io
November 5, 2023 at 2:01 PM
As part of v4, we are happy to announce the launch of the #gnomAD forum broad.io/gnomad_forum. This will be a place for our users to help each other, discuss the data and ask questions. #ASHG2023
To learn more about what is involved with QCing the gnomAD v4 dataset please attend Julia Goodrich’s #ASHG2023 talk today (11/4) at 10:30am in ballroom B.
QC of v4 required analyzing over 1 BILLION variants! More than 910 million variants passed our filters and are available on our browser broad.io/gnomad. More details on this variant dataset are available on our new stats page broad.io/gnomad_stats (3/11)
November 4, 2023 at 1:00 PM
To learn more about what is involved with QCing the gnomAD v4 dataset please attend Julia Goodrich’s #ASHG2023 talk today (11/4) at 10:30am in ballroom B.
To learn more about the impact of diversity on variant discovery and gene constraint please attend Katherine Chao’s #ASHG23 talk tomorrow (11/4) at 11am in rm 202A
Our genetic ancestry blog broad.io/gnomad_ancestry discusses our efforts to improve representation in #gnomAD, how we label groups and how the diversity in gnomAD is improving genomic filtration. (4/11)
November 3, 2023 at 1:01 PM
To learn more about the impact of diversity on variant discovery and gene constraint please attend Katherine Chao’s #ASHG23 talk tomorrow (11/4) at 11am in rm 202A
As part of #gnomAD v4, in collaboration with the Talkowski Lab, we have released 1,199,117 genome SVs and 66,903 rare exome CNVs. These data represent the first gnomAD SV dataset released native to the GRCh38 reference genome. (1/2)
November 2, 2023 at 12:58 PM
As part of #gnomAD v4, in collaboration with the Talkowski Lab, we have released 1,199,117 genome SVs and 66,903 rare exome CNVs. These data represent the first gnomAD SV dataset released native to the GRCh38 reference genome. (1/2)
The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad #ASHG23 (1/11)
November 1, 2023 at 6:35 PM
The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad #ASHG23 (1/11)