@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
@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
Steven Gazal, PhD
@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
Kirill Zaslavsky, MD, PhD
@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
Alejandro Mejia-Garcia, MSc
@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
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
Florin Ratajczak, MS
@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
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
🚨 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👇
Oliver Pain, PhD
@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
Valerie Arboleda, MD, PhD
@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
Smiling woman working on computer in laboratory setting, with scientific equipment around
⏰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
"HGG Advances has established itself as a leading platform for scientists to share their discoveries. Thank you to our vibrant community of researchers, authors, reviewers, editorial board members, and readers!" Mike Bamshad, MD HGG Advances Editor-in-Chief
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
@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
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
@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
@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
Colby Tubbs, PhD
@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
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
Tala Shahin, PhD
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
Jessica Honorato-Mauer, MS
@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
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
Attendees of the ASHG 2024 Annual Meeting using their laptop computers during a session.
🗓️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
Anahit Hovhannisyan, PhD
@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
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
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
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
