📅 Friday, November 13, 2026
⏰ 1:45–3:45 PM EST
🎤 Workshop | Pre-registration required | CEU-eligible
#NSGC2026 #GeneticCounseling #HumanPangenome #Genomics #GenomicMedicine #VariantInterpretation #PrecisionMedicine #GCChat
⏰ 1:45–3:45 PM EST
🎤 Workshop | Pre-registration required | CEU-eligible
#NSGC2026 #GeneticCounseling #HumanPangenome #Genomics #GenomicMedicine #VariantInterpretation #PrecisionMedicine #GCChat
November 9, 2026 at 11:03 PM
📅 Friday, November 13, 2026
⏰ 1:45–3:45 PM EST
🎤 Workshop | Pre-registration required | CEU-eligible
#NSGC2026 #GeneticCounseling #HumanPangenome #Genomics #GenomicMedicine #VariantInterpretation #PrecisionMedicine #GCChat
⏰ 1:45–3:45 PM EST
🎤 Workshop | Pre-registration required | CEU-eligible
#NSGC2026 #GeneticCounseling #HumanPangenome #Genomics #GenomicMedicine #VariantInterpretation #PrecisionMedicine #GCChat
🗓️⏰Today! "Making MAVEs clinically actionable: Functional data generation and variant classification with MaveMD" ℹ️➡️ www.varianteffect.org/seminar-seri... #ClinicalGenomics #FunctionalGenomics #Seminar
#VariantInterpretation #VariantEffects
#VariantInterpretation #VariantEffects
November's Variant Effects Seminar will be held on Tuesday, 3 November (4–5 pm UTC). Hear from @pankhurigupta.bsky.social and Abbye McEwen, MD/PhD as they discuss making MAVEs clinically actionable.
More info and joining instructions: www.varianteffect.org/seminar-seri...
More info and joining instructions: www.varianteffect.org/seminar-seri...
November 3, 2026 at 2:41 PM
🗓️⏰Today! "Making MAVEs clinically actionable: Functional data generation and variant classification with MaveMD" ℹ️➡️ www.varianteffect.org/seminar-seri... #ClinicalGenomics #FunctionalGenomics #Seminar
#VariantInterpretation #VariantEffects
#VariantInterpretation #VariantEffects
See Folklore in action: navigate the workspace, review cases and explore variant evidence in our 12-minute tutorial.
www.youtube.com/watch?v=aEp6...
#Genomics #VariantInterpretation #Bioinformatics
www.youtube.com/watch?v=aEp6...
#Genomics #VariantInterpretation #Bioinformatics
Folklore Tutorial: Genomic Variant Interpretation | Helena Bioinformatics
YouTube video by Helena Bioinformatics
www.youtube.com
October 26, 2026 at 1:23 AM
See Folklore in action: navigate the workspace, review cases and explore variant evidence in our 12-minute tutorial.
www.youtube.com/watch?v=aEp6...
#Genomics #VariantInterpretation #Bioinformatics
www.youtube.com/watch?v=aEp6...
#Genomics #VariantInterpretation #Bioinformatics
DECIPHER version 11.41 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
October 8, 2026 at 12:29 PM
DECIPHER version 11.41 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
www.ahajournals.org/doi/full/10....
#Genomics #FamilialHypercholesterolemia #CardiovascularGenetics #VariantInterpretation #HealthEquity #GenomicMedicine #PrecisionMedicine
#Genomics #FamilialHypercholesterolemia #CardiovascularGenetics #VariantInterpretation #HealthEquity #GenomicMedicine #PrecisionMedicine
A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals | Circulation
BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder characterized by lifelong elevated LDL-C (low-density lipoprotein cholesterol) and increased risk for premature myocardial…
www.ahajournals.org
October 1, 2026 at 10:02 PM
DECIPHER version 11.40 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER v11.40: Mapping the clinical genome
DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwide
www.deciphergenomics.org
July 10, 2026 at 9:57 AM
DECIPHER version 11.40 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.39 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER v11.39: Mapping the clinical genome
DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwide
www.deciphergenomics.org
June 10, 2026 at 2:08 PM
DECIPHER version 11.39 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.38 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
March 26, 2026 at 12:46 PM
DECIPHER version 11.38 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.37 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
January 28, 2026 at 12:46 PM
DECIPHER version 11.37 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.35 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
October 31, 2025 at 10:07 AM
DECIPHER version 11.35 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.34 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
September 10, 2025 at 3:47 PM
DECIPHER version 11.34 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.33 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
July 10, 2025 at 9:05 AM
DECIPHER version 11.33 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.32 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
June 18, 2025 at 2:25 PM
DECIPHER version 11.32 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.31 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
May 7, 2025 at 1:28 PM
DECIPHER version 11.31 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
March 21, 2025 at 12:18 PM
DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
January 8, 2025 at 4:01 PM
DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
📅OCT 17 | 2:30-4:30 PM | Poster 5057F
Jayoung Ryu ( @jykr.bsky.social ) presents "SIMBA+: Dissecting genetic variant function through single-cell multiomics integration"
Exciting multiomics integration work! #SingleCell #Multiomics #VariantInterpretation #ASHG2025
Jayoung Ryu ( @jykr.bsky.social ) presents "SIMBA+: Dissecting genetic variant function through single-cell multiomics integration"
Exciting multiomics integration work! #SingleCell #Multiomics #VariantInterpretation #ASHG2025
October 15, 2025 at 1:41 PM
📅OCT 17 | 2:30-4:30 PM | Poster 5057F
Jayoung Ryu ( @jykr.bsky.social ) presents "SIMBA+: Dissecting genetic variant function through single-cell multiomics integration"
Exciting multiomics integration work! #SingleCell #Multiomics #VariantInterpretation #ASHG2025
Jayoung Ryu ( @jykr.bsky.social ) presents "SIMBA+: Dissecting genetic variant function through single-cell multiomics integration"
Exciting multiomics integration work! #SingleCell #Multiomics #VariantInterpretation #ASHG2025
Episode 4 of the ESHG Webinar Series is now available on YouTube!
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
youtu.be
June 26, 2025 at 11:27 AM
Episode 4 of the ESHG Webinar Series is now available on YouTube!
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
"Navigating variant interpretation in a sea of guidelines"
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
May 25, 2025 at 1:00 PM
"Navigating variant interpretation in a sea of guidelines"
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
Recalibrated #varianteffectpredictors modestly reclassify ~5% of missense VUS with strong agreement across tools, supporting their integration into ACMG/AMP #variantinterpretation. bit.ly/4clckoM #GIMO #PP3BP4Criteria #ACMG_AMPRecommendations #ClinGen
April 15, 2026 at 1:23 AM
Recalibrated #varianteffectpredictors modestly reclassify ~5% of missense VUS with strong agreement across tools, supporting their integration into ACMG/AMP #variantinterpretation. bit.ly/4clckoM #GIMO #PP3BP4Criteria #ACMG_AMPRecommendations #ClinGen
ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen
May 22, 2025 at 3:14 PM
ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen
📢 The latest issue of the European Journal of Human Genetics is online! 🧬
✨ From #RareDiseases and #HereditaryCancers, to #VariantInterpretation, and ethical challenges in genomic medicine, explore the the latest articles in the August issue of #EJHG.
🔗: www.nature.com/ejhg/volumes...
✨ From #RareDiseases and #HereditaryCancers, to #VariantInterpretation, and ethical challenges in genomic medicine, explore the the latest articles in the August issue of #EJHG.
🔗: www.nature.com/ejhg/volumes...
August 12, 2026 at 8:58 AM
📢 The latest issue of the European Journal of Human Genetics is online! 🧬
✨ From #RareDiseases and #HereditaryCancers, to #VariantInterpretation, and ethical challenges in genomic medicine, explore the the latest articles in the August issue of #EJHG.
🔗: www.nature.com/ejhg/volumes...
✨ From #RareDiseases and #HereditaryCancers, to #VariantInterpretation, and ethical challenges in genomic medicine, explore the the latest articles in the August issue of #EJHG.
🔗: www.nature.com/ejhg/volumes...
📢 September’s #AltmetricChampion!
Spotlight paper this month: ‘Not all pathogenic variants are in coding regions! A review of Mendelian disease–causing UTR variants' 🧬
Read here ⬇️
#Genetics #UTR #VariantInterpretation
Spotlight paper this month: ‘Not all pathogenic variants are in coding regions! A review of Mendelian disease–causing UTR variants' 🧬
Read here ⬇️
#Genetics #UTR #VariantInterpretation
Not all pathogenic variants are in coding regions! 👀
📢 This review highlights Mendelian disease-causing UTR variants, their mechanisms, and implications for clinical interpretation. 🧬 #Mendelian #UTRvariants #ejhg
www.nature.com/articles/s41...
📢 This review highlights Mendelian disease-causing UTR variants, their mechanisms, and implications for clinical interpretation. 🧬 #Mendelian #UTRvariants #ejhg
www.nature.com/articles/s41...
The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics
European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review
www.nature.com
October 3, 2025 at 8:06 AM
📢 September’s #AltmetricChampion!
Spotlight paper this month: ‘Not all pathogenic variants are in coding regions! A review of Mendelian disease–causing UTR variants' 🧬
Read here ⬇️
#Genetics #UTR #VariantInterpretation
Spotlight paper this month: ‘Not all pathogenic variants are in coding regions! A review of Mendelian disease–causing UTR variants' 🧬
Read here ⬇️
#Genetics #UTR #VariantInterpretation
Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. #GenomicVariants #VariantInterpretation #AI @gigascience.bsky.social
academic.oup.com/gigascience/...
academic.oup.com/gigascience/...
January 18, 2026 at 10:15 AM
Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. #GenomicVariants #VariantInterpretation #AI @gigascience.bsky.social
academic.oup.com/gigascience/...
academic.oup.com/gigascience/...
Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...
www.nature.com/articles/s41...
July 29, 2025 at 3:02 PM
Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...
www.nature.com/articles/s41...