@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
@hggadvances.bsky.social sat with Carissa Sherman, PhD, and Betzaida Maldonado in the latest "Inside HGGA" to discuss their recently published paper, “Underrepresented Voices in a Colorado Biobank.”➡️ https://bit.ly/4r7swB4 #ASHG #HumanGenetics #GeneticsDiscoveries
Inside HGGA: A Chat with Carissa Sherman and Betzaida Maldonado
Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Carissa Sherman and Betzaida Maldonado to dis...
bit.ly
September 12, 2026 at 7:30 PM
@hggadvances.bsky.social sat with Carissa Sherman, PhD, and Betzaida Maldonado in the latest "Inside HGGA" to discuss their recently published paper, “Underrepresented Voices in a Colorado Biobank.”➡️ https://bit.ly/4r7swB4 #ASHG #HumanGenetics #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
@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
Go beyond @ajhgnews.bsky.social recent paper with authors Maya Sabatello and Ellen Wright Clayton on Sept. 9 (12 PM U.S. ET) for a Journal Club webinar discussion on responsible biomedical data sharing.
Register Now: https://bit.ly/45nniah
#ASHG #HumanGenetics #GeneticsDiscoveries
Register Now: https://bit.ly/45nniah
#ASHG #HumanGenetics #GeneticsDiscoveries
August 14, 2026 at 6:54 PM
Go beyond @ajhgnews.bsky.social recent paper with authors Maya Sabatello and Ellen Wright Clayton on Sept. 9 (12 PM U.S. ET) for a Journal Club webinar discussion on responsible biomedical data sharing.
Register Now: https://bit.ly/45nniah
#ASHG #HumanGenetics #GeneticsDiscoveries
Register Now: https://bit.ly/45nniah
#ASHG #HumanGenetics #GeneticsDiscoveries
New work from @fabiomorganz.bsky.social & co in @hggadvances.bsky.social's explores the contribution of gene-environment interactions to blood pressure variation across global populations: https://www.cell.com/hgg-advances/fulltext/S2666-2477(26)00096-5 #ASHG #HumanGenetics #GeneticsDiscoveries
August 6, 2026 at 3:00 PM
New work from @fabiomorganz.bsky.social & co in @hggadvances.bsky.social's explores the contribution of gene-environment interactions to blood pressure variation across global populations: https://www.cell.com/hgg-advances/fulltext/S2666-2477(26)00096-5 #ASHG #HumanGenetics #GeneticsDiscoveries
@hggadvances.bsky.social sat with Tamara Roman, PhD, in the latest "Inside HGGA" to discuss her recently published paper, “Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?“
➡️ https://bit.ly/4hm7oUz
#ASHG #HumanGenetics #GeneticsDiscoveries
➡️ https://bit.ly/4hm7oUz
#ASHG #HumanGenetics #GeneticsDiscoveries
July 20, 2026 at 5:57 PM
@hggadvances.bsky.social sat with Tamara Roman, PhD, in the latest "Inside HGGA" to discuss her recently published paper, “Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?“
➡️ https://bit.ly/4hm7oUz
#ASHG #HumanGenetics #GeneticsDiscoveries
➡️ https://bit.ly/4hm7oUz
#ASHG #HumanGenetics #GeneticsDiscoveries
@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
@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
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
14 individuals from 9 families show joint hypermobility & neurodevelopmental disorder due to bi-allelic OLA1 variants. #GeneticsDiscoveries PMID:41887223, Am J Hum Genet 2026, @AJHGNews https://www.cell.com/ajhg/fulltext/S0002-9297(26)00111-4 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/ajhg/fulltext/S0002-9297(26)00111-4
No description available
www.cell.com
May 14, 2026 at 12:10 PM
14 individuals from 9 families show joint hypermobility & neurodevelopmental disorder due to bi-allelic OLA1 variants. #GeneticsDiscoveries PMID:41887223, Am J Hum Genet 2026, @AJHGNews https://www.cell.com/ajhg/fulltext/S0002-9297(26)00111-4 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
@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
@hggadvances.bsky.social's latest article helps identify juvenile idiopathic arthritis risk SNPs and downstream target genes, offering new paths to biological insight and future therapeutic targets: https://bit.ly/4usr2Sj #ASHG #HumanGenetics #GeneticsDiscoveries
May 7, 2026 at 3:01 PM
@hggadvances.bsky.social's latest article helps identify juvenile idiopathic arthritis risk SNPs and downstream target genes, offering new paths to biological insight and future therapeutic targets: https://bit.ly/4usr2Sj #ASHG #HumanGenetics #GeneticsDiscoveries
@hggadvances.bsky.social sat with Hyung-lok Chung, PhD, in the latest "Inside HGGA" to discuss his recently published paper, “Loss-of-Function Variants in MARK2 Cause Neurodevelopmental Disorder.”➡️ https://bit.ly/4mZVOQ8 #ASHG #GeneticsDiscoveries #HumanGenetics
Inside HGGA: A Chat with Hyung-lok Chung
Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Hyung-lok Chung to discuss his paper "Loss-of...
bit.ly
May 4, 2026 at 5:49 PM
@hggadvances.bsky.social sat with Hyung-lok Chung, PhD, in the latest "Inside HGGA" to discuss his recently published paper, “Loss-of-Function Variants in MARK2 Cause Neurodevelopmental Disorder.”➡️ https://bit.ly/4mZVOQ8 #ASHG #GeneticsDiscoveries #HumanGenetics
@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
Through a community-based participatory research approach, @hggadvances.bsky.social's latest article aims to identify barriers & actionable strategies to improve genetic testing completion offered through the Breast Health Assessment: https://bit.ly/4t6uilG #ASHG #HumanGenetics #GeneticsDiscoveries
March 26, 2026 at 8:57 PM
Through a community-based participatory research approach, @hggadvances.bsky.social's latest article aims to identify barriers & actionable strategies to improve genetic testing completion offered through the Breast Health Assessment: https://bit.ly/4t6uilG #ASHG #HumanGenetics #GeneticsDiscoveries
@hggadvances.bsky.social latest study identifies bi-allelic variants in two AP-5 complex genes, AP5Z1 and AP5B1, in patients with macular degeneration, highlighting the importance of membrane trafficking in maintaining retinal health: https://bit.ly/3PgrVhw #ASHG #HumanGenetics #GeneticsDiscoveries
March 19, 2026 at 10:15 PM
@hggadvances.bsky.social latest study identifies bi-allelic variants in two AP-5 complex genes, AP5Z1 and AP5B1, in patients with macular degeneration, highlighting the importance of membrane trafficking in maintaining retinal health: https://bit.ly/3PgrVhw #ASHG #HumanGenetics #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 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
@ajhgnews.bsky.social sat with Alejandro Mejia-Garcia, MSc, in the latest "Inside AJHG" to discuss his recently published paper, “Using the ancestral recombination graph to study the history of rare variants in founder populations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries
December 8, 2025 at 9:29 PM
@ajhgnews.bsky.social sat with Alejandro Mejia-Garcia, MSc, in the latest "Inside AJHG" to discuss his recently published paper, “Using the ancestral recombination graph to study the history of rare variants in founder populations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries
To identify carriers of C9orf72 repeat expansion alleles, a major cause of ALS and FTD, the authors of the latest @hggadvances.bsky.social article developed a LASSO-based genome-wide DNA methylation predictor. Learn more: www.cell.com/hgg-advances... #ASHG #HumanGenetics #GeneticsDiscoveries
October 3, 2025 at 6:42 PM
To identify carriers of C9orf72 repeat expansion alleles, a major cause of ALS and FTD, the authors of the latest @hggadvances.bsky.social article developed a LASSO-based genome-wide DNA methylation predictor. Learn more: www.cell.com/hgg-advances... #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
@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
@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
Discover the deep-learning method that captures genetic interaction effects and outperforms existing methods—Variational AutoEncoder-based Model for PRS Construction (VAE-PRS). Read @hggadvances.bsky.social's latest article for more details: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries
August 14, 2025 at 8:14 PM
Discover the deep-learning method that captures genetic interaction effects and outperforms existing methods—Variational AutoEncoder-based Model for PRS Construction (VAE-PRS). Read @hggadvances.bsky.social's latest article for more details: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries