The Open Targets Platform autumn (26.09) release is out now! 🍂
It's packed with genetics updates, with:
🧬 1.24 million new molecular QTL credible sets
🧬 2 new sources of gene burden data
🧬 Updates from the GWAS Catalog
🧬 Genetic constraint data for X- and Y-linked genes through gnomAD
and more!
It's packed with genetics updates, with:
🧬 1.24 million new molecular QTL credible sets
🧬 2 new sources of gene burden data
🧬 Updates from the GWAS Catalog
🧬 Genetic constraint data for X- and Y-linked genes through gnomAD
and more!
September 28, 2026 at 9:41 AM
The Open Targets Platform autumn (26.09) release is out now! 🍂
It's packed with genetics updates, with:
🧬 1.24 million new molecular QTL credible sets
🧬 2 new sources of gene burden data
🧬 Updates from the GWAS Catalog
🧬 Genetic constraint data for X- and Y-linked genes through gnomAD
and more!
It's packed with genetics updates, with:
🧬 1.24 million new molecular QTL credible sets
🧬 2 new sources of gene burden data
🧬 Updates from the GWAS Catalog
🧬 Genetic constraint data for X- and Y-linked genes through gnomAD
and more!
Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies https://www.biorxiv.org/content/10.64898/2026.09.14.750622v1
September 20, 2026 at 2:31 AM
Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies https://www.biorxiv.org/content/10.64898/2026.09.14.750622v1
Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies https://www.biorxiv.org/content/10.64898/2026.09.14.750622v1
September 20, 2026 at 2:31 AM
Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies https://www.biorxiv.org/content/10.64898/2026.09.14.750622v1
7/
gnomAD
Planning to interpret mutations?
gnomAD tells you what’s rare, common, or likely benign.
Aggregated from 100k+ genomes.
gnomad.broadinstitute.org/
gnomAD
Planning to interpret mutations?
gnomAD tells you what’s rare, common, or likely benign.
Aggregated from 100k+ genomes.
gnomad.broadinstitute.org/
September 17, 2026 at 1:45 PM
7/
gnomAD
Planning to interpret mutations?
gnomAD tells you what’s rare, common, or likely benign.
Aggregated from 100k+ genomes.
gnomad.broadinstitute.org/
gnomAD
Planning to interpret mutations?
gnomAD tells you what’s rare, common, or likely benign.
Aggregated from 100k+ genomes.
gnomad.broadinstitute.org/
!!NFSOT!! The More You Toke! Sept 7, 2026 From Gnomad Cannabis Co. Roswell NM!!! The Dino Meat!! A School of higher learning! #stoner #reefersdaily #cannacommunity #localgrowers #mariguana
September 7, 2026 at 7:52 PM
!!NFSOT!! The More You Toke! Sept 7, 2026 From Gnomad Cannabis Co. Roswell NM!!! The Dino Meat!! A School of higher learning! #stoner #reefersdaily #cannacommunity #localgrowers #mariguana
Across 534M gnomAD v4.1 variants, this recurrent input accounts for an estimated 4% of the rarest variants and more than 15% of common ones.
The effect is strongest in segmental duplications but runs along the full length of every chromosome.
The effect is strongest in segmental duplications but runs along the full length of every chromosome.
September 5, 2026 at 7:53 PM
Across 534M gnomAD v4.1 variants, this recurrent input accounts for an estimated 4% of the rarest variants and more than 15% of common ones.
The effect is strongest in segmental duplications but runs along the full length of every chromosome.
The effect is strongest in segmental duplications but runs along the full length of every chromosome.
The new Ensembl VEP web interface just got upgraded for human GRCh38 variants! Add scores from AlphaMissense, REVEL, CADD, and SpliceAI. Link gnomAD frequencies, ClinVar & GWAS Catalog phenotypes to your data. Try it at- ensembl.org/tools/vep
Blog- www.ensembl.info/2026/09/04/n...
Blog- www.ensembl.info/2026/09/04/n...
September 4, 2026 at 4:30 PM
The new Ensembl VEP web interface just got upgraded for human GRCh38 variants! Add scores from AlphaMissense, REVEL, CADD, and SpliceAI. Link gnomAD frequencies, ClinVar & GWAS Catalog phenotypes to your data. Try it at- ensembl.org/tools/vep
Blog- www.ensembl.info/2026/09/04/n...
Blog- www.ensembl.info/2026/09/04/n...
An Early View: Clinical interpretation of #monogenic #diabetes relies on ClinVar and gnomAd, yet both are skewed toward European ancestry. This study evaluated whether that skew translates into unequal diagnostic yield for non-European patients.
🔗 Read here: onlinelibrary.wiley.com/doi/full/10....
🔗 Read here: onlinelibrary.wiley.com/doi/full/10....
September 3, 2026 at 3:17 PM
An Early View: Clinical interpretation of #monogenic #diabetes relies on ClinVar and gnomAd, yet both are skewed toward European ancestry. This study evaluated whether that skew translates into unequal diagnostic yield for non-European patients.
🔗 Read here: onlinelibrary.wiley.com/doi/full/10....
🔗 Read here: onlinelibrary.wiley.com/doi/full/10....
Anyone else having problems with @gnomad-project.bsky.social today? I get an "Unable to load gene" error with some genes in version 4.1.1, strangely no error if I try gnomAD2.1.1
September 1, 2026 at 9:44 AM
Anyone else having problems with @gnomad-project.bsky.social today? I get an "Unable to load gene" error with some genes in version 4.1.1, strangely no error if I try gnomAD2.1.1
We are excited to announce the gnomAD v4.1.1 and MPC tracks on the UCSC Genome Browser. This release updates gnomAD's variant and constraint tracks and adds new MPC tracks predicting missense deleteriousness.
Learn more at: genome.ucsc.edu/gold...
Learn more at: genome.ucsc.edu/gold...
August 27, 2026 at 2:17 AM
We are excited to announce the gnomAD v4.1.1 and MPC tracks on the UCSC Genome Browser. This release updates gnomAD's variant and constraint tracks and adds new MPC tracks predicting missense deleteriousness.
Learn more at: genome.ucsc.edu/gold...
Learn more at: genome.ucsc.edu/gold...
ClinPred pathogenicity score track for hg19 and hg38 is now available!
ClinPred is a machine-learning predictor of pathogenicity for nonsynonymous SNVs, combining existing pathogenicity scores with population allele frequency from gnomAD.
Learn more at: https://bit.ly/3SsKDV2
ClinPred is a machine-learning predictor of pathogenicity for nonsynonymous SNVs, combining existing pathogenicity scores with population allele frequency from gnomAD.
Learn more at: https://bit.ly/3SsKDV2
August 11, 2026 at 11:26 PM
ClinPred pathogenicity score track for hg19 and hg38 is now available!
ClinPred is a machine-learning predictor of pathogenicity for nonsynonymous SNVs, combining existing pathogenicity scores with population allele frequency from gnomAD.
Learn more at: https://bit.ly/3SsKDV2
ClinPred is a machine-learning predictor of pathogenicity for nonsynonymous SNVs, combining existing pathogenicity scores with population allele frequency from gnomAD.
Learn more at: https://bit.ly/3SsKDV2
You will wishlist Gnomad on Steam
#youwillwishlistgnomadonsteam #gnomadisagreatgame #coolgamesaboutgnomes
#youwillwishlistgnomadonsteam #gnomadisagreatgame #coolgamesaboutgnomes
August 11, 2026 at 1:04 AM
You will wishlist Gnomad on Steam
#youwillwishlistgnomadonsteam #gnomadisagreatgame #coolgamesaboutgnomes
#youwillwishlistgnomadonsteam #gnomadisagreatgame #coolgamesaboutgnomes
3. They have a dramatically elevated de novo mutation rate (~50-fold higher than intronic sequence), complicating delineation of pathogenic from benign variation👇 (figure by @alexblakes.bsky.social)
4. There suffer frequent annotation issues, complicating comparisons across variant databases.
4/7
4. There suffer frequent annotation issues, complicating comparisons across variant databases.
4/7
August 5, 2026 at 11:12 AM
3. They have a dramatically elevated de novo mutation rate (~50-fold higher than intronic sequence), complicating delineation of pathogenic from benign variation👇 (figure by @alexblakes.bsky.social)
4. There suffer frequent annotation issues, complicating comparisons across variant databases.
4/7
4. There suffer frequent annotation issues, complicating comparisons across variant databases.
4/7
gnomad-genetics-mcp-server: how common is a variant, in which ancestry, and can a gene tolerate losing function (pLI/LOEUF). human population genetics over gnomAD. keyless. github.com/cyanheads/gnomad-genetics-mcp-server #MCP #genomics #bioinformatics
July 30, 2026 at 4:01 PM
gnomad-genetics-mcp-server: how common is a variant, in which ancestry, and can a gene tolerate losing function (pLI/LOEUF). human population genetics over gnomAD. keyless. github.com/cyanheads/gnomad-genetics-mcp-server #MCP #genomics #bioinformatics
I love being tut-tut'ed by gnomad when I search using an rsid. 👴
July 27, 2026 at 4:12 PM
I love being tut-tut'ed by gnomad when I search using an rsid. 👴
Look like they'd make great Gnomad Feastmasters to me
July 24, 2026 at 5:06 PM
Look like they'd make great Gnomad Feastmasters to me
My friend Darren is looking for a really sweet Treelord Ancient photo that he can use as the illustration for a named character in his Gnomad Feastmasters community battletome.
Preferably converted, because it's Unique. Anyone got a good quality photo you'd be ok with him using?
Preferably converted, because it's Unique. Anyone got a good quality photo you'd be ok with him using?
July 23, 2026 at 9:30 PM
My friend Darren is looking for a really sweet Treelord Ancient photo that he can use as the illustration for a named character in his Gnomad Feastmasters community battletome.
Preferably converted, because it's Unique. Anyone got a good quality photo you'd be ok with him using?
Preferably converted, because it's Unique. Anyone got a good quality photo you'd be ok with him using?
Discover how genetic variation influences drug response! SNPdrug3D maps 1.17M missense variants from 80K+ individuals affecting binding of ~6000 drugs. #Genomics PMID:42265106, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-73816-4 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
Genomic landscape of drug binding and pharmacogenetic variation across diverse populations using SNPdrug3D | Nature Communications
One of the promises of precision medicine is to understand and act on inter-individual genetic differences in drug responses. SNPdrug3D contains the complete genomic landscape of missense single nucleotide variants (SNV) across the human proteome and at a population-wide level that could affect drug binding. Here, we map SNVs in over 80,000 individuals from the Singapore SG10K Health and gnomAD cohorts to identify ~1.17 million variants mapped to residues near ~6000 bound drugs in protein-drug complexes and experimentally verify effects of selected SNVs, including previously uncharacterized variants, on drug binding in relevant proteins ranging from kinases to cytochrome P450s (CYPs). The latter led to a specific predictor for interpreting variants in the CYP family that outperforms existing tools in the prediction of pharmacogenetic effects based on database-annotated (AUROC = 0.9) or assay-based (AUROC = 0.8) test sets. By placing variants and drugs in structural contexts, SNPdrug3D
doi.org
July 20, 2026 at 3:00 AM
First ever post to Bluesky!!! This is a drawing of my DnD character, Gnomad!!!
#oc #digitalart #clipstudiopaint #dnd #artist
#oc #digitalart #clipstudiopaint #dnd #artist
July 16, 2026 at 1:16 AM
First ever post to Bluesky!!! This is a drawing of my DnD character, Gnomad!!!
#oc #digitalart #clipstudiopaint #dnd #artist
#oc #digitalart #clipstudiopaint #dnd #artist
Regional Nonsense Constraint data, evidence of intolerance to premature stop codons in the context of nonsense-mediated decay, is displayed as a track in the genome browser #RareDisease #VariantClassification @gnomad-project.bsky.social
July 10, 2026 at 9:59 AM
Regional Nonsense Constraint data, evidence of intolerance to premature stop codons in the context of nonsense-mediated decay, is displayed as a track in the genome browser #RareDisease #VariantClassification @gnomad-project.bsky.social
Regional Nonsense Constraint can be viewed on the protein browser, highlighting regions of transcripts that do not tolerant stop_gained variants – based on @gnomad-project.bsky.social and integrated in collaboration with @alexblakes.bsky.social #VariantClassification
July 10, 2026 at 9:58 AM
Regional Nonsense Constraint can be viewed on the protein browser, highlighting regions of transcripts that do not tolerant stop_gained variants – based on @gnomad-project.bsky.social and integrated in collaboration with @alexblakes.bsky.social #VariantClassification
💡 Summary:
- 記事は、家庭でOxford Nanopore MinIONを使って自身のゲノムを5回測定する過程と、それに伴う準備、コスト、技術的側面を詳述している。
- 自分のゲノムデータを活用する具体的手段として、VCFを基にVEPやClinVar、gnomAD、PharmGKBなどのツールで変異・影響・薬物代謝の差異を検討し、最終的にはAIやモデルに統合していく未来像を説明している。
- 記事は実験手順の詳細（材料・試薬・機器・プロトコルの各ステップ）を網羅しており、初期の用途は「静的ゲノムをクエリ可能な状態にすること」であり、 (1/2)
- 記事は、家庭でOxford Nanopore MinIONを使って自身のゲノムを5回測定する過程と、それに伴う準備、コスト、技術的側面を詳述している。
- 自分のゲノムデータを活用する具体的手段として、VCFを基にVEPやClinVar、gnomAD、PharmGKBなどのツールで変異・影響・薬物代謝の差異を検討し、最終的にはAIやモデルに統合していく未来像を説明している。
- 記事は実験手順の詳細（材料・試薬・機器・プロトコルの各ステップ）を網羅しており、初期の用途は「静的ゲノムをクエリ可能な状態にすること」であり、 (1/2)
July 7, 2026 at 1:44 PM
💡 Summary:
- 記事は、家庭でOxford Nanopore MinIONを使って自身のゲノムを5回測定する過程と、それに伴う準備、コスト、技術的側面を詳述している。
- 自分のゲノムデータを活用する具体的手段として、VCFを基にVEPやClinVar、gnomAD、PharmGKBなどのツールで変異・影響・薬物代謝の差異を検討し、最終的にはAIやモデルに統合していく未来像を説明している。
- 記事は実験手順の詳細（材料・試薬・機器・プロトコルの各ステップ）を網羅しており、初期の用途は「静的ゲノムをクエリ可能な状態にすること」であり、 (1/2)
- 記事は、家庭でOxford Nanopore MinIONを使って自身のゲノムを5回測定する過程と、それに伴う準備、コスト、技術的側面を詳述している。
- 自分のゲノムデータを活用する具体的手段として、VCFを基にVEPやClinVar、gnomAD、PharmGKBなどのツールで変異・影響・薬物代謝の差異を検討し、最終的にはAIやモデルに統合していく未来像を説明している。
- 記事は実験手順の詳細（材料・試薬・機器・プロトコルの各ステップ）を網羅しており、初期の用途は「静的ゲノムをクエリ可能な状態にすること」であり、 (1/2)
Today I am joined by Jason from Gnomad Cannabis, a fully vertical NM cannabis business. He shares his story and advice. Then we talk about inspections getting worse in the state, to the point some feel targeted. We end with an update on the DEA cannabis hearing. linktr.ee/acgrassylogic
July 4, 2026 at 3:10 AM
Today I am joined by Jason from Gnomad Cannabis, a fully vertical NM cannabis business. He shares his story and advice. Then we talk about inspections getting worse in the state, to the point some feel targeted. We end with an update on the DEA cannabis hearing. linktr.ee/acgrassylogic
Updating Gnomad Feastmasters for 4th edition for the 3 people that might care 🤣
Fun learning process though, hmu if youd like a nose
Fun learning process though, hmu if youd like a nose
June 30, 2026 at 9:15 AM
Updating Gnomad Feastmasters for 4th edition for the 3 people that might care 🤣
Fun learning process though, hmu if youd like a nose
Fun learning process though, hmu if youd like a nose
Shout out to the @gnomad-project.bsky.social crew - finally Dutch beer brewers listened to your word puns - proudly present l‘oeuf…
June 29, 2026 at 5:26 PM
Shout out to the @gnomad-project.bsky.social crew - finally Dutch beer brewers listened to your word puns - proudly present l‘oeuf…