Wishlist Gnomad on Steam!
Gnomad is an offbeat, hand-drawn, bouncing-ball platformer.
Take on the role of a gnome exploring a whimsical, sunken forest while engaging in fast-paced combat by spiking, ricocheting, and redirecting oddball enemies and bouncy projectiles.
#indiegame #indiedev #devlog
Gnomad is an offbeat, hand-drawn, bouncing-ball platformer.
Take on the role of a gnome exploring a whimsical, sunken forest while engaging in fast-paced combat by spiking, ricocheting, and redirecting oddball enemies and bouncy projectiles.
#indiegame #indiedev #devlog
November 14, 2025 at 9:20 PM
Wishlist Gnomad on Steam!
Gnomad is an offbeat, hand-drawn, bouncing-ball platformer.
Take on the role of a gnome exploring a whimsical, sunken forest while engaging in fast-paced combat by spiking, ricocheting, and redirecting oddball enemies and bouncy projectiles.
#indiegame #indiedev #devlog
Gnomad is an offbeat, hand-drawn, bouncing-ball platformer.
Take on the role of a gnome exploring a whimsical, sunken forest while engaging in fast-paced combat by spiking, ricocheting, and redirecting oddball enemies and bouncy projectiles.
#indiegame #indiedev #devlog
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications
Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…
www.nature.com
November 4, 2025 at 3:06 PM
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
What kind of game does this look like to you?
This is the latest build of our indie game, Gnomad. It's difficult to capture the gameplay in screenshots because it's very motion-heavy.
Im curious how it reads.
#screenshotsaturday #igf2026 #indiegames #indiedev
This is the latest build of our indie game, Gnomad. It's difficult to capture the gameplay in screenshots because it's very motion-heavy.
Im curious how it reads.
#screenshotsaturday #igf2026 #indiegames #indiedev
October 11, 2025 at 10:45 PM
What kind of game does this look like to you?
This is the latest build of our indie game, Gnomad. It's difficult to capture the gameplay in screenshots because it's very motion-heavy.
Im curious how it reads.
#screenshotsaturday #igf2026 #indiegames #indiedev
This is the latest build of our indie game, Gnomad. It's difficult to capture the gameplay in screenshots because it's very motion-heavy.
Im curious how it reads.
#screenshotsaturday #igf2026 #indiegames #indiedev
Cool update in Ensembl VEP (release 115):
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
Cool stuff Ensembl VEP can do: annotate structural variants with gnomAD allele frequencies and ClinVar clinical significance – Ensembl Blog
zurl.co
October 10, 2025 at 1:55 PM
Cool update in Ensembl VEP (release 115):
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).
Improved allele frequencies in gnomAD through local ancestry inference - Nature Communications
This study incorporates local ancestry into the Genome Aggregation Database (gnomAD) to improve allele frequency estimates for admixed populations, enhancing variant interpretation and enabling more accurate and equitable genomic research and clinical care.
www.nature.com
October 6, 2025 at 6:31 PM
📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).
Thrilled to share our new @natcomms.nature.com paper on local ancestry informed allele frequencies in gnomAD, which are live now on the browser! Check out my stellar PhD student @pragskore.bsky.social’s Bluetorial on how this brings finer detail to variant interpretation 🧬🖥️
📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).
Improved allele frequencies in gnomAD through local ancestry inference - Nature Communications
This study incorporates local ancestry into the Genome Aggregation Database (gnomAD) to improve allele frequency estimates for admixed populations, enhancing variant interpretation and enabling more accurate and equitable genomic research and clinical care.
www.nature.com
October 6, 2025 at 6:44 PM
Thrilled to share our new @natcomms.nature.com paper on local ancestry informed allele frequencies in gnomAD, which are live now on the browser! Check out my stellar PhD student @pragskore.bsky.social’s Bluetorial on how this brings finer detail to variant interpretation 🧬🖥️
An expanded genomic database for identifying disease-related variants 🏺🧪
nature.com/articles/d41...
A human-genome database called gnomAD, has enabled investigation of how variants in non-protein-coding regions of the genome affect health.
nature.com/articles/d41...
A human-genome database called gnomAD, has enabled investigation of how variants in non-protein-coding regions of the genome affect health.
January 18, 2024 at 6:04 PM
An expanded genomic database for identifying disease-related variants 🏺🧪
nature.com/articles/d41...
A human-genome database called gnomAD, has enabled investigation of how variants in non-protein-coding regions of the genome affect health.
nature.com/articles/d41...
A human-genome database called gnomAD, has enabled investigation of how variants in non-protein-coding regions of the genome affect health.
It should come as no surprise, but generating all this data takes a huge team effort. In particular, Charlotte Tolonen, Sam Bryant, and Sam Novod were critical to data generation for gnomAD v4.
2/5
2/5
November 15, 2023 at 7:19 PM
It should come as no surprise, but generating all this data takes a huge team effort. In particular, Charlotte Tolonen, Sam Bryant, and Sam Novod were critical to data generation for gnomAD v4.
2/5
2/5
Helpful description of the choices of population designators in gnomAD: gnomad.broadinstitute.org/news/2023-11...
November 9, 2023 at 4:01 PM
Helpful description of the choices of population designators in gnomAD: gnomad.broadinstitute.org/news/2023-11...
Citation: A paper that compares genetic markers in the Amish to those of the entire continent of Africa
July 15, 2023 at 7:30 PM
Citation: A paper that compares genetic markers in the Amish to those of the entire continent of Africa
I too am a trans cartoonist
January 26, 2025 at 7:57 PM
I too am a trans cartoonist
We're thrilled to announce that Gnomad has made it into the final round of the @blueoceangames.bsky.social #RisingTideChallenge! Thanks so much for your support!
Voting is live now. There's a ton of wonderful games to see, so go make your voice heard! Have a great day everybody! #ScreenshotSaturday
Voting is live now. There's a ton of wonderful games to see, so go make your voice heard! Have a great day everybody! #ScreenshotSaturday
October 18, 2025 at 6:05 PM
We're thrilled to announce that Gnomad has made it into the final round of the @blueoceangames.bsky.social #RisingTideChallenge! Thanks so much for your support!
Voting is live now. There's a ton of wonderful games to see, so go make your voice heard! Have a great day everybody! #ScreenshotSaturday
Voting is live now. There's a ton of wonderful games to see, so go make your voice heard! Have a great day everybody! #ScreenshotSaturday
On annotation tabs, @gnomad-project.bsky.social mitochondrial DNA variant homoplasmic and heteroplasmic counts and allele frequencies for each haplogroup are displayed alongside lineage information from MITOMAP. Heteroplasmy distribution and coverage metrics are also available
October 31, 2025 at 10:07 AM
On annotation tabs, @gnomad-project.bsky.social mitochondrial DNA variant homoplasmic and heteroplasmic counts and allele frequencies for each haplogroup are displayed alongside lineage information from MITOMAP. Heteroplasmy distribution and coverage metrics are also available
Enhanced Allele Frequencies in gnomAD via Ancestry
In the ever-evolving landscape of human genetics, one of the most transformative advances has come from large-scale reference databases that catalog the myriad variations in human DNA. Among these, the Genome Aggregation Database, or gnomAD, has…
In the ever-evolving landscape of human genetics, one of the most transformative advances has come from large-scale reference databases that catalog the myriad variations in human DNA. Among these, the Genome Aggregation Database, or gnomAD, has…
Enhanced Allele Frequencies in gnomAD via Ancestry
In the ever-evolving landscape of human genetics, one of the most transformative advances has come from large-scale reference databases that catalog the myriad variations in human DNA. Among these, the Genome Aggregation Database, or gnomAD, has been a cornerstone resource, providing scientists around the globe with comprehensive allele frequency data for millions of genetic variants. However, a persistent challenge has been how best to capture the rich tapestry of human ancestry that shapes these allele frequencies, particularly in admixed populations.
scienmag.com
October 6, 2025 at 11:03 AM
Enhanced Allele Frequencies in gnomAD via Ancestry
In the ever-evolving landscape of human genetics, one of the most transformative advances has come from large-scale reference databases that catalog the myriad variations in human DNA. Among these, the Genome Aggregation Database, or gnomAD, has…
In the ever-evolving landscape of human genetics, one of the most transformative advances has come from large-scale reference databases that catalog the myriad variations in human DNA. Among these, the Genome Aggregation Database, or gnomAD, has…
Wishlist Gnomad Here: store.steampowered.com/app/4165290/...
Gnomad on Steam
Gnomad is an offbeat, hand-drawn, bouncing-ball platformer. Play as a gnome exploring a whimsical, sunken forest while engaging in fast-paced combat by spiking, ricocheting, and redirecting oddball en...
store.steampowered.com
November 15, 2025 at 3:20 PM
Wishlist Gnomad Here: store.steampowered.com/app/4165290/...
Finally, an extra shout-out to Samantha Baxter (@sambaxter.bsky.social), our scientific operations manager. She took on the majority of the FAQ overhaul, kept the steering committee on track with help from Katherine Chao, and made the gnomAD heart logo I keep using.
5/5
5/5
November 15, 2023 at 7:20 PM
Finally, an extra shout-out to Samantha Baxter (@sambaxter.bsky.social), our scientific operations manager. She took on the majority of the FAQ overhaul, kept the steering committee on track with help from Katherine Chao, and made the gnomAD heart logo I keep using.
5/5
5/5
@dgmacarthur any chance we could have SMN1/SMN2 data in gnomad despite the multi-mapping? Really struggling to classify missense variants without population data! @JustineMarum @TeamVCGS
December 20, 2024 at 8:55 PM
@dgmacarthur any chance we could have SMN1/SMN2 data in gnomad despite the multi-mapping? Really struggling to classify missense variants without population data! @JustineMarum @TeamVCGS
This is all thanks to an amazing production team, browser team, and steering committee @gnomad-project.bsky.social, the 76,156 individuals that provided their genomes, and support from Broad Genomics and Hail
December 6, 2023 at 5:12 PM
This is all thanks to an amazing production team, browser team, and steering committee @gnomad-project.bsky.social, the 76,156 individuals that provided their genomes, and support from Broad Genomics and Hail
Ready for the next release of gnomad feastmasters
July 5, 2025 at 7:27 PM
Ready for the next release of gnomad feastmasters
We have a new Recommended Track Set (RTS), Exon Relevance, and a new track, gnomAD Proportion Expression Across Transcript Scores (pext) for hg38.
The pext track shows @gnomad-project.bsky.social data in combination with GTExV10 to compute a metric quantifying isoform expression for variants.
The pext track shows @gnomad-project.bsky.social data in combination with GTExV10 to compute a metric quantifying isoform expression for variants.
May 16, 2025 at 6:35 PM
We have a new Recommended Track Set (RTS), Exon Relevance, and a new track, gnomAD Proportion Expression Across Transcript Scores (pext) for hg38.
The pext track shows @gnomad-project.bsky.social data in combination with GTExV10 to compute a metric quantifying isoform expression for variants.
The pext track shows @gnomad-project.bsky.social data in combination with GTExV10 to compute a metric quantifying isoform expression for variants.
Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease idp.nature.com/authorize?re...
A genomic mutational constraint map using variation in 76,156 human genomes - Nature
A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulator...
idp.nature.com
December 6, 2023 at 5:10 PM
Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease idp.nature.com/authorize?re...
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
I can't image a be a better first post on bluesky! I am so excited to have #gnomAD v4 finally launched. An open-source dataset of this scale is going make a difference for patients and families with rare disease #genechat
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 7:16 PM
I like to wear bright hats and hang out in the garden but I also grew up restless, and moved a lot, place to place.
I was a gnomad.
I am more settled now. More at gnome with myself.
This is what my brain does on the bus.
I was a gnomad.
I am more settled now. More at gnome with myself.
This is what my brain does on the bus.
May 5, 2025 at 10:28 AM
I like to wear bright hats and hang out in the garden but I also grew up restless, and moved a lot, place to place.
I was a gnomad.
I am more settled now. More at gnome with myself.
This is what my brain does on the bus.
I was a gnomad.
I am more settled now. More at gnome with myself.
This is what my brain does on the bus.
Individual genomes differ, tissue isoform expressions differ, why use a single reference for proteomic studies? Check out our study (led by Xiaolong Cao) on new things one can find in proteomes leveraging GTEx and @gnomad-project.bsky.social projects:
A Massive Proteogenomic Screen Identifies Thousands of Novel Peptides From the Human “Dark” Proteome
Although the human gene annotation has been continuously improved over the past 2 decades, numerous studies demonstrated the existence of a “dark prot…
t.co
February 12, 2024 at 6:43 PM
Individual genomes differ, tissue isoform expressions differ, why use a single reference for proteomic studies? Check out our study (led by Xiaolong Cao) on new things one can find in proteomes leveraging GTEx and @gnomad-project.bsky.social projects: