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
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🗓️TOMORROW'S THE DAY!
Learn how the NIH's PRIMED Consortium is advancing equitable polygenic risk predictions via its methods and tools w/ speakers Iftikhar Kullo, MD, & blueyedgenes.bsky.social, MPH, PhD.
#ASHG #HumanGenetics #GeneticsDiscoveries
Learn how the NIH's PRIMED Consortium is advancing equitable polygenic risk predictions via its methods and tools w/ speakers Iftikhar Kullo, MD, & blueyedgenes.bsky.social, MPH, PhD.
#ASHG #HumanGenetics #GeneticsDiscoveries
January 14, 2025 at 4:31 PM
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@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
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@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
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@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...
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April 23, 2025 at 9:00 PM
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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
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@ajhgnews.bsky.social sat with @val-arboleda.bsky.social in the latest "Inside AJHG" to discuss her recently published paper, “Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries #HumanGenetics
July 3, 2025 at 5:34 PM
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@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
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The @ajhgnews.bsky.social sat with @tala-shahin.bsky.social, PhD, in the latest "Inside AJHG" to discuss her recently published paper, “Single-cell transcriptomics reveals inter-ethnic variation in immune response to Falciparum malaria.”➡️ www.ashg.org/ajhg/inside-...
#ASHG #GeneticsDiscoveries
#ASHG #GeneticsDiscoveries
March 13, 2025 at 2:07 PM
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@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
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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
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Systematic review and meta-analysis from @hggadvances.bsky.social latest article suggests that ∼11% of small cell lung cancer patients harbor likely pathogenic variants and argues for genetic testing in clinical care: www.cell.com/hgg-advances... #ASHG #HumanGenetics #GeneticsDiscoveries
May 7, 2025 at 6:37 PM
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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
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⏰TODAY! Get insights from the All of Us Research Program in this completely virtual June journal club highlighting germline variants and their relationship to cancer occurrence.
💬Come curious, leave inspired.
🔗Register now: learning.ashg.org/products/can...
#ASHG #GeneticsDiscoveries
💬Come curious, leave inspired.
🔗Register now: learning.ashg.org/products/can...
#ASHG #GeneticsDiscoveries
June 11, 2025 at 2:18 PM
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@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
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@hggadvances.bsky.social latest study reports that 9% of individuals with at least one LP/P variant had multiple molecular diagnoses (MMD) & roughly 60% of individuals with an MMD had a potentially actionable secondary or incidental finding: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries
April 11, 2025 at 2:27 PM
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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
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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
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Identifying risk genes for atopic dermatitis, an inflammatory skin disease, this @hggadvances.bsky.social article prioritized 53 genes involved in key inflammatory & barrier-related pathways w/ potential therapeutic implications: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries
March 13, 2025 at 5:52 PM
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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
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Featured Symposia Interactive Workshops
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January 10, 2025 at 5:49 PM
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@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
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🚨 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
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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
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@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
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