🧬🐭🧬 New from Bajpai et al! 📄 Genetic dissection of cardiac iron regulation using transcriptome network analysis and systems genetics in BXD mice 👉 www.cell.com/hgg-advances...

Using data from two large consortia, @hggadvances.bsky.social's latest article identified genes w/ rare variants linked to multiple cancer types. The findings suggest that some rare variants influence cancer risk across a wider range of cancers than previously thought: https://bit.ly/4hXtoFX #ASHG

🧬New from @clementychow.bsky.social & co! 📄The stress-induced transcription factor ATF4 has multiple conserved retrocopies that can alter gene expression www.cell.com/hgg-advances...

🧬Online now! 📄Considering social risk alongside genetic risk for bipolar disorder in the All of Us Research Program 🧑‍🤝‍🧑 @mikelove.bsky.social @rrsharp.bsky.social & co 👉 tinyurl.com/3tm4mn45

🧬New from @piperbelow.bsky.social & co! Multi-omic characterization of the Hispanic/Latino blood lipidome reveals an additional locus and attenuated genetic prediction 👉 tinyurl.com/2a5zh2ta

What happens when leading experts come together? Join ASHG's upcoming virtual symposium for two days of scientific exchange featuring opening keynotes, abstract presentations, & panel discussions on #AI & #machinelearning advances in #humangenetics: https://bit.ly/4pLrGt7 #ASHG

🧬New from @jennacarlson.bsky.social & co! 📄Variant Harmonization Critically Determines Polygenic Score Transferability for Lipid Traits in Samoan Populations 👉 bit.ly/4qDWQmG

@hggadvances.bsky.social's latest article from @mquinodoz.bsky.social & co identifies the recurrent AP5B1 p.Leu785Pro variant as a relatively frequent cause of late-onset macular dystrophy in individuals of European and Ashkenazi Jewish ancestry.: https://bit.ly/4xEGCf8 #ASHG #HumanGenetics

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

This international study identifies the recurrent AP5B1 c.2354T>C p.(Leu785Pro) variant as a relatively frequent cause of late-onset macular dystrophy in individuals of European and Ashkenazi Jewish a...

cell.com

🧬New from Lindström & co! 📄 The pleiotropic landscape of rare variant associations with multiple cancers in large biobanks

The pleiotropic landscape of rare variant associations with multiple cancers in large biobanks

Researchers used data from the UK Biobank and All of Us Research program to identify genes where rare genetic variants are associated with cancer diagnosis across multiple cancer types. The results su...

cell.com

🧬New from Peglow et al! 📄Sources of distrust in precision medicine research: Findings from a focus groups study with adults with disabilities 👉 bit.ly/4ciSn2T

🧬New from Sherman et al! 📄Underrepresented Voices in a Colorado Biobank: Perspectives from Focus Groups on Motivations, Return of Results, and Data Sharing 👉 bit.ly/4wBtyGo

We’re celebrating the seven recipients of the 2026 ASHG Professional Awards! 🎉Through research, education, mentorship, and public service, these honorees are advancing human genetics and genomics, strengthening our field, and helping science serve society. Meet the awardees: https://bit.ly/4fYBU60

The authors of @hggadvances.bsky.social's latest article demonstrate that cryptic relatedness between studies causes confounding in meta-analysis and develop a method to estimate and model between-study covariance: https://www.cell.com/hgg-advances/fulltext/S2666-2477(26)00097-7 #ASHG #HumanGenetics

Clear your calendar for TODAY’s journal club!!

American Society of Human Genetics (ASHG)@geneticssociety.bsky.social · 3w ago

Last chance to register! Join @adel-aide.bsky.social, PhD, TOMORROW (Aug. 12 at 12 pm U.S. ET) for our Journal Club webinar exploring how MPRA design influences type 2 diabetes-associated regulatory activity. Register: https://bit.ly/4vuVqf3 #ASHG @hggadvances.bsky.social #HumanGenetics

🧬 New from Liskova et al! 📄 The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations 👉 bit.ly/4g0ueij

When genes are nearly identical, standard short-read sequencing can fall short. @hggadvances.bsky.social's latest article uses Parascopy to recover variants missed by conventional callers, enabling a range of genetic studies: https://www.cell.com/hgg-advances/fulltext/S2666-2477(26)00093-X #ASHG

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

🧬 New from @fabiomorganz.bsky.social & co! 📄 Gene-environment interactions contribute to blood pressure variation across global populations 👉 bit.ly/4c74Gil

🧬New from Tu & Ochoa! 📄Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness 👉 bit.ly/3S0jPLF

Ok I know these two people discussing our new paper are not real but who doesn’t want to hear their lab’s new paper covered for 30 minutes??

Base by Base@basebybase.bsky.social · last mo.

New episode: we break down validation of the 17-item EAGL-short—a tool measuring subjective knowledge, comprehension, and conceptual genetic knowledge in ~2,700 US adults. Hear how numeracy, education, and auti… https://basebybase.com/episodes/eagl-psychometric-validation/ @hggadvances.bsky.social

By engineering POGZ variants in human iPSCs, the authors of @hggadvances.bsky.social's latest article identified molecular "hubs" where POGZ converges w/ other neurodevelopmental disorder risk genes to disrupt synaptic signaling and extracellular matrix integrity: https://bit.ly/4hnIbt1 #ASHG

New episode: GWAS + untargeted metabolomics in 1,244 people with HIV reveals genetic control of plasma metabolites, eQTL colocalizations, and MR links to kidney and lipid biomarkers — Listen now https://basebybase.com/episodes/genetic-metabolomics-hiv-428/ @hggadvances.bsky.social

New episode: we break down validation of the 17-item EAGL-short—a tool measuring subjective knowledge, comprehension, and conceptual genetic knowledge in ~2,700 US adults. Hear how numeracy, education, and auti… https://basebybase.com/episodes/eagl-psychometric-validation/ @hggadvances.bsky.social

🧬 New from Herrick et al! 📄 Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci 👉 bit.ly/4wiprQs

You won't want to miss our next journal club!

American Society of Human Genetics (ASHG)@geneticssociety.bsky.social · last mo.

How can MPRA design shape insights into type 2 diabetes-associated gene regulation? Join our August 8 Journal Club webinar at 12 pm U.S. ET as @adel-aide.bsky.social shares findings from her @hggadvances.bsky.social's latest article. Register now: https://bit.ly/4vuVqf3 #ASHG #HumanGenetics

🧬 New from Prodanov et al! 📄 Aggregate variant calling using short reads enables population and disease studies for paralogous genes 👉 bit.ly/3Rvom8u

@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

🧬New from @poseypod.bsky.social & co! 📄Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families 👉 bit.ly/4wLFW7g

Genetic literacy shapes how society interacts w/ genetics—but existing measures lack knowledge comprehension & psychometric validation. @girlscientist.bsky.social & co of @hggadvances.bsky.social's latest article validate EAGL, identifying 2 multi-domain measures for wide use: https://bit.ly/4fe0uy6

🧬New from Moyses-Oliveira et al! 📄 #CRISPR -engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling 👉 bit.ly/4gFnit8