🚨 Join us at #ASHG25!🚨
We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent, reusable, and #FAIR.
#HumanGenetics #GeneticsDiscoveries #EffectorGene #GWAS #FunctionalGenomics #PEGstandard👇
We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent, reusable, and #FAIR.
#HumanGenetics #GeneticsDiscoveries #EffectorGene #GWAS #FunctionalGenomics #PEGstandard👇
August 7, 2025 at 8:08 AM
🚨 Join us at #ASHG25!🚨
We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent, reusable, and #FAIR.
#HumanGenetics #GeneticsDiscoveries #EffectorGene #GWAS #FunctionalGenomics #PEGstandard👇
We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent, reusable, and #FAIR.
#HumanGenetics #GeneticsDiscoveries #EffectorGene #GWAS #FunctionalGenomics #PEGstandard👇
Can human genetic evidence can improve drug development success? The latest @hggadvances.bsky.social article by @brent-richards.bsky.social & co. uses IntAct, a protein interaction database, to explore this question: www.cell.com/hgg-advances... #ASHG #HumanGenetics #GeneticsDiscoveries
January 31, 2025 at 6:25 PM
Can human genetic evidence can improve drug development success? The latest @hggadvances.bsky.social article by @brent-richards.bsky.social & co. uses IntAct, a protein interaction database, to explore this question: www.cell.com/hgg-advances... #ASHG #HumanGenetics #GeneticsDiscoveries
The American Journal of Human Genetics sat with @fritzroth.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “A missense variant effect map for the human tumor suppressor protein CHK2.”➡️https://www.ashg.org/ajhg/inside-ajhg-with-fritz-roth/ #ASHG #GeneticsDiscoveries
December 16, 2024 at 7:01 PM
The American Journal of Human Genetics sat with @fritzroth.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “A missense variant effect map for the human tumor suppressor protein CHK2.”➡️https://www.ashg.org/ajhg/inside-ajhg-with-fritz-roth/ #ASHG #GeneticsDiscoveries
@ajhgnews.bsky.social sat with Kimberley Anderson, PhD, in the latest "Inside AJHG" to discuss her recently published paper, “Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.” ➡️ https://bit.ly/4hbuxsp #ASHG #HumanGenetics #GeneticsDiscoveries
September 4, 2026 at 9:50 PM
@ajhgnews.bsky.social sat with Kimberley Anderson, PhD, in the latest "Inside AJHG" to discuss her recently published paper, “Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.” ➡️ https://bit.ly/4hbuxsp #ASHG #HumanGenetics #GeneticsDiscoveries
@hggadvances.bsky.social latest article applies Breasi-CRISPR, an approach that couples in utero electroporation and CRISPR editing, to model Megalencephaly Postaxial Polydactyly Polymicrogyria Hydrocephalus (MPPH) syndrome: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries #HumanGenetics
August 28, 2025 at 8:10 PM
@hggadvances.bsky.social latest article applies Breasi-CRISPR, an approach that couples in utero electroporation and CRISPR editing, to model Megalencephaly Postaxial Polydactyly Polymicrogyria Hydrocephalus (MPPH) syndrome: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries #HumanGenetics
@hggadvances.bsky.social sat with Oliver Pain, PhD, in the latest "Inside HGGA" to discuss his recently published paper, “Leveraging Global Genetics Resources to Enhance Polygenic Prediction Across Ancestrally Diverse Populations.” ➡️ www.ashg.org/hgga/inside-... #ASHG #GeneticsDiscoveries
August 1, 2025 at 9:54 PM
@hggadvances.bsky.social sat with Oliver Pain, PhD, in the latest "Inside HGGA" to discuss his recently published paper, “Leveraging Global Genetics Resources to Enhance Polygenic Prediction Across Ancestrally Diverse Populations.” ➡️ www.ashg.org/hgga/inside-... #ASHG #GeneticsDiscoveries
What does it really mean for a trait to be “polygenic”? @lukeoconnor.bsky.social & Guy Sella, authors of @ajhgnews.bsky.social's latest article, define polygenicity from first principles, introducing clear, quantitative measures: https://bit.ly/49bCsld #ASHG #HumanGenetics #GeneticsDiscoveries
May 21, 2026 at 7:14 PM
What does it really mean for a trait to be “polygenic”? @lukeoconnor.bsky.social & Guy Sella, authors of @ajhgnews.bsky.social's latest article, define polygenicity from first principles, introducing clear, quantitative measures: https://bit.ly/49bCsld #ASHG #HumanGenetics #GeneticsDiscoveries
@ajhgnews.bsky.social sat with Jessica Honorato-Mauer, MS, in the latest "Inside AJHG" to discuss her recently published paper, “Characterizing features affecting local ancestry inference performance in admixed populations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
February 11, 2025 at 7:38 PM
@ajhgnews.bsky.social sat with Jessica Honorato-Mauer, MS, in the latest "Inside AJHG" to discuss her recently published paper, “Characterizing features affecting local ancestry inference performance in admixed populations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
Share your unique ideas!🌟Propose a Featured Symposium or Interactive Workshop for #ASHG25! From DEIA to software and ELSI topics, let’s build an unforgettable program together. Apply by Feb. 10! ⤵️ #ASHG #HumanGenetics #GeneticsDiscoveries
Present
Featured Symposia Interactive Workshops
www.ashg.org
January 10, 2025 at 5:49 PM
Share your unique ideas!🌟Propose a Featured Symposium or Interactive Workshop for #ASHG25! From DEIA to software and ELSI topics, let’s build an unforgettable program together. Apply by Feb. 10! ⤵️ #ASHG #HumanGenetics #GeneticsDiscoveries
@ajhgnews.bsky.social sat with @itskatelawrence.bsky.social, in the latest "Inside AJHG" to discuss her recently published paper, “Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants.“➡️ https://bit.ly/4m2sTud #ASHG #HumanGenetics #GeneticsDiscoveries
April 1, 2026 at 10:04 PM
@ajhgnews.bsky.social sat with @itskatelawrence.bsky.social, in the latest "Inside AJHG" to discuss her recently published paper, “Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants.“➡️ https://bit.ly/4m2sTud #ASHG #HumanGenetics #GeneticsDiscoveries
@ajhgnews.bsky.social latest article from @acflewis.bsky.social & co examines how the eMERGE‑IV Network balances the benefits of broad data sharing w/ protections against individual & group‑level harms: https://bit.ly/3OJ9TET #ASHG #HumanGenetics #GeneticsDiscoveries
May 7, 2026 at 7:10 PM
@ajhgnews.bsky.social latest article from @acflewis.bsky.social & co examines how the eMERGE‑IV Network balances the benefits of broad data sharing w/ protections against individual & group‑level harms: https://bit.ly/3OJ9TET #ASHG #HumanGenetics #GeneticsDiscoveries
Experimental analysis of pre-mRNA splicing is a valuable tool in reclassifying variants of uncertain significance. @hggadvances.bsky.social latest article assesses the limitations of in silico mRNA splicing prediction tools: bit.ly/4pCGyt4 #ASHG #HumanGenetics #GeneticsDiscoveries #GeneticsEducation
September 26, 2025 at 1:20 PM
Experimental analysis of pre-mRNA splicing is a valuable tool in reclassifying variants of uncertain significance. @hggadvances.bsky.social latest article assesses the limitations of in silico mRNA splicing prediction tools: bit.ly/4pCGyt4 #ASHG #HumanGenetics #GeneticsDiscoveries #GeneticsEducation
Human Genetics and Genomics Advances' latest study emphasizes the importance of considering social determinants of health (SDoH) in disease risk predictions to ensure equity in precision medicine: www.cell.com/hgg-advances...
#ASHG #HumanGenetics #GeneticsDiscoveries
#ASHG #HumanGenetics #GeneticsDiscoveries
December 10, 2024 at 9:28 PM
Human Genetics and Genomics Advances' latest study emphasizes the importance of considering social determinants of health (SDoH) in disease risk predictions to ensure equity in precision medicine: www.cell.com/hgg-advances...
#ASHG #HumanGenetics #GeneticsDiscoveries
#ASHG #HumanGenetics #GeneticsDiscoveries
@ajhgnews.bsky.social sat with Kirill Zaslavsky, MD, PhD, in the latest "Inside AJHG" to discuss his recently published paper, “Low population penetrance of variants associated with inherited retinal degenerations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries
January 12, 2026 at 4:49 PM
@ajhgnews.bsky.social sat with Kirill Zaslavsky, MD, PhD, in the latest "Inside AJHG" to discuss his recently published paper, “Low population penetrance of variants associated with inherited retinal degenerations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries
@hggadvances.bsky.social sat with Steven Gazal, PhD, in the latest "Inside HGG Advances" to discuss his recently published paper, “Evaluating genetic ancestry inference from single-cell transcriptomic datasets.”➡️ https://bit.ly/4b3MQgn #ASHG #GeneticsDiscoveries
March 11, 2026 at 4:03 PM
@hggadvances.bsky.social sat with Steven Gazal, PhD, in the latest "Inside HGG Advances" to discuss his recently published paper, “Evaluating genetic ancestry inference from single-cell transcriptomic datasets.”➡️ https://bit.ly/4b3MQgn #ASHG #GeneticsDiscoveries
@ajhgnews.bsky.social sat with @anahit19.bsky.social in the latest "Inside AJHG" to discuss her recently published paper, “Demographic history and genetic variation of the Armenian population.”
➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
January 10, 2025 at 10:50 PM
@ajhgnews.bsky.social sat with @anahit19.bsky.social in the latest "Inside AJHG" to discuss her recently published paper, “Demographic history and genetic variation of the Armenian population.”
➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
@ajhgnews.bsky.social sat with Colby Tubbs, PhD, in the latest "Inside AJHG" to discuss his recently published paper, “Identifying deleterious noncoding variation through gain and loss of CTCF binding activity” ➡️ ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
April 2, 2025 at 7:01 PM
@ajhgnews.bsky.social sat with Colby Tubbs, PhD, in the latest "Inside AJHG" to discuss his recently published paper, “Identifying deleterious noncoding variation through gain and loss of CTCF binding activity” ➡️ ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
Mike Bamshad, MD, said it best — THANK YOU! The support of @hggadvances.bsky.social from our vibrant community members has made the last five years truly remarkable.
Check out this article to see what HGG Advances has in store: www.ashg.org/publications... #ASHG #GeneticsDiscoveries
Check out this article to see what HGG Advances has in store: www.ashg.org/publications... #ASHG #GeneticsDiscoveries
May 20, 2025 at 5:19 PM
Mike Bamshad, MD, said it best — THANK YOU! The support of @hggadvances.bsky.social from our vibrant community members has made the last five years truly remarkable.
Check out this article to see what HGG Advances has in store: www.ashg.org/publications... #ASHG #GeneticsDiscoveries
Check out this article to see what HGG Advances has in store: www.ashg.org/publications... #ASHG #GeneticsDiscoveries
@mikelove.bsky.social, @rrsharp.bsky.social, & co of @hggadvances.bsky.social's latest article demonstrate that social risk factors confer substantial explanatory power beyond genetic liability alone: https://bit.ly/4x4qCCC #ASHG #HumanGenetics #GeneticsDiscoveries
September 3, 2026 at 3:15 PM
@mikelove.bsky.social, @rrsharp.bsky.social, & co of @hggadvances.bsky.social's latest article demonstrate that social risk factors confer substantial explanatory power beyond genetic liability alone: https://bit.ly/4x4qCCC #ASHG #HumanGenetics #GeneticsDiscoveries
@hggadvances.bsky.social's latest article presents a multiomic study of idiopathic scoliosis that helps to elucidate disease mechanisms & enable therapeutic and biomarker development: https://bit.ly/3QpfUaq #ASHG #HumanGenetics #GeneticsDiscoveries
June 11, 2026 at 3:03 PM
@hggadvances.bsky.social's latest article presents a multiomic study of idiopathic scoliosis that helps to elucidate disease mechanisms & enable therapeutic and biomarker development: https://bit.ly/3QpfUaq #ASHG #HumanGenetics #GeneticsDiscoveries
@ajhgnews.bsky.social latest article presents work from the Solve-RD Consortium that shows how integrated mtDNA analyses improve rare disease diagnostics, even when mitochondrial disorders are not suspected: www.cell.com/ajhg/fulltex... #ASHG @ritahorvath.bsky.social #GeneticsDiscoveries
May 7, 2025 at 7:57 PM
@ajhgnews.bsky.social latest article presents work from the Solve-RD Consortium that shows how integrated mtDNA analyses improve rare disease diagnostics, even when mitochondrial disorders are not suspected: www.cell.com/ajhg/fulltex... #ASHG @ritahorvath.bsky.social #GeneticsDiscoveries
@hggadvances.bsky.social sat with Anne Gregor, PhD, in the latest "Inside HGGA" to discuss her recently published paper, “Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency.”➡️ ashg.org/hgga/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
Inside HGGA: A Chat with Anne Gregor, PhD
Editors of Human Genetics and Genomics Advances sat down with Anne Gregor, PhD to discuss her recently published paper “Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficien...
ashg.org
April 23, 2025 at 9:00 PM
@hggadvances.bsky.social sat with Anne Gregor, PhD, in the latest "Inside HGGA" to discuss her recently published paper, “Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency.”➡️ ashg.org/hgga/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
@clare-turnbull.bsky.social & colleagues of @ajhgnews.bsky.social latest article presents CanVar-UK, an international data-sharing and variant interpretation platform for cancer susceptibility genes: https://www.cell.com/ajhg/abstract/S0002-9297(26)00307-1 #ASHG #HumanGenetics #GeneticsDiscoveries
CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes
CanVar-UK is a data sharing and variant interpretation platform for cancer susceptibility
genes (CSGs) housing in silico, functional, case/control frequency, and multifactorial
data for over 1.1 milli...
www.cell.com
September 23, 2026 at 5:34 PM
@clare-turnbull.bsky.social & colleagues of @ajhgnews.bsky.social latest article presents CanVar-UK, an international data-sharing and variant interpretation platform for cancer susceptibility genes: https://www.cell.com/ajhg/abstract/S0002-9297(26)00307-1 #ASHG #HumanGenetics #GeneticsDiscoveries
@ajhgnews.bsky.social sat with Florin Ratajczak, MS, in the latest "Inside AJHG" to discuss his recently published paper, “Exploring the omnigenic architecture of selected complex traits.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
August 29, 2025 at 5:00 PM
@ajhgnews.bsky.social sat with Florin Ratajczak, MS, in the latest "Inside AJHG" to discuss his recently published paper, “Exploring the omnigenic architecture of selected complex traits.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
@ajhgnews.bsky.social sat with @nbaya.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.“➡️ https://bit.ly/4wpciEI #ASHG #GeneticsDiscoveries
July 7, 2026 at 7:45 PM
@ajhgnews.bsky.social sat with @nbaya.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.“➡️ https://bit.ly/4wpciEI #ASHG #GeneticsDiscoveries