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Genome Aggregation Database Profile
Genome Aggregation Database

@gnomad_project

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The world's largest open resource of human genetic variation. For help please use https://t.co/RYRjYJLrTQ; feature requests/bug reports to https://t.co/YUQGPHndSI

Cambridge, MA
Joined February 2020
Don't wanna be here? Send us removal request.
@gnomad_project
Genome Aggregation Database
2 months
Honored to be spotlighted by @globalbiodata this week.
@globalbiodata
GlobalBiodata
2 months
Our featured GCBR of the week is The Genome Aggregation Database (gnomAD) which aggregates and harmonises both exome and genome sequencing data from large-scale sequencing projects. Click the link to find out more @NIH
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@gnomad_project
Genome Aggregation Database
8 months
Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!
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@gnomad_project
Genome Aggregation Database
9 months
RT @egatkinson: I'm excited to announce that we have generated local ancestry informed allele frequencies for the inferred African/African….
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@gnomad_project
Genome Aggregation Database
1 year
GeniE, the genetic prevalence estimator, is now available! This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar. Blog post:
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@gnomad_project
Genome Aggregation Database
1 year
RT @gnomad_project: gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities:.1) Joint AN acros….
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@gnomad_project
Genome Aggregation Database
1 year
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
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@gnomad_project
Genome Aggregation Database
2 years
RT @ksamocha: Our paper describing a way to infer the phase of rare variant pairs using gnomAD v2 is out now in Nature Genetics. We hope t….
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@gnomad_project
Genome Aggregation Database
2 years
RT @konradjk: Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and….
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@gnomad_project
Genome Aggregation Database
2 years
A special congratulations to @konradjk, @sc2643, @ksamocha and @MGoGuo for all their hard work on these publications. Read more about this work at (2/2)
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@gnomad_project
Genome Aggregation Database
2 years
The #gnomAD v3 papers are now published! This includes the non-coding constraint paper ( & inferring compound heterozygosity paper (. Congratulations to everyone who contributed to this valuable work! (1/2)
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@gnomad_project
Genome Aggregation Database
2 years
Please take a few minuets to provide feedback to the #hail team!.
@hailgenetics
Hail
2 years
Hey all! We are running a survey to solicit broad-based feedback from users & *non-users* of Hail.Query. We'd like to hear from anyone who analyzes sequencing or genotype-chip datasets!. All questions optional, fully anonymous, & takes <=10min!.
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@gnomad_project
Genome Aggregation Database
2 years
As part of v4, we are happy to announce the launch of the #gnomAD forum This will be a place for our users to help each other, discuss the data and ask questions. #ASHG23.
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@gnomad_project
Genome Aggregation Database
2 years
To learn more about what is involved with QCing the gnomAD v4 dataset please attend Julia Goodrich’s #ASHG23 talk today (11/4) at 10:30am in ballroom B.
@gnomad_project
Genome Aggregation Database
2 years
QC of v4 required analyzing over 1 BILLION variants! More than 910 million variants passed our filters and are available on our browser More details on this variant dataset are available on our new stats page (3/11).
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@gnomad_project
Genome Aggregation Database
2 years
Gene constraint is now available on #gnomAD v4! This is the first time we have had constraint data available on GRCh38. Katherine Chao will be covering this work during her talk at #ASHG23 tomorrow (11/4) at 11am in rm 202A.
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@gnomad_project
Genome Aggregation Database
2 years
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.
@gnomad_project
Genome Aggregation Database
2 years
Our genetic ancestry blog discusses our efforts to improve representation in #gnomAD, how we label groups and how the diversity in gnomAD is improving genomic filtration. (4/11).
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@gnomad_project
Genome Aggregation Database
2 years
To learn more about the technical details of how this data was generated read our blog posts and If you are attending #ASHG23 please attend Jack Fu’s talk today (11/2) at 1:45pm in rm 202A (2/2)
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@gnomad_project
Genome Aggregation Database
2 years
As part of #gnomAD v4, in collaboration with the @TalkowskiLab, 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)
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@gnomad_project
Genome Aggregation Database
2 years
@hailgenetics @tpoterba @BroadGenomics Keep an eye on this account for the next few days to learn more about our methods including structural variation, genomic ancestry, and our QC process. In the meantime check out the v4 dataset at (11/11).
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@gnomad_project
Genome Aggregation Database
2 years
@hailgenetics @tpoterba @BroadGenomics And of course, a special thank you to the 308 gnomAD data contributors and all the individuals who have enrolled in research. Without their willingness to share data and participate in research, gnomAD would not exist! (10/11).
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@gnomad_project
Genome Aggregation Database
2 years
@hailgenetics @tpoterba The full gnomAD v4 launch team was composed of multiple groups at the Broad spanning the MPG and DSP programs as listed below, with most data generated by @BroadGenomics. Thank you!!! (9/11)
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