The American Journal of Human Genetics

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Inclusion bias affects common variant discovery and replication in a health-system linked biobank We quantify inclusion bias in a health-system-linked biobank using classification models to distinguish enrolled individuals from the background population. To evaluate its impact on genetic findings ...

🧬New today!
📄Inclusion bias affects common variant discovery and replication in a health-system linked biobank
🧑‍🤝‍🧑 @loldeloo.bsky.social @apimplaskar.bsky.social @bpasaniuc.bsky.social & colleagues

📚A great ELSI resource for educators - Humane Genetics Curriculum (HGC)

It provides teaching materials designed to support thoughtful engagement with genetics, ethics, and society.

🔗https://connect.elsihub.org/c/general-discussion-e32f0f/public-release-of-humane-genetics-curriculum-hgc-materials

Capa do episodio Base by Base: Episode 313: Integrating Polygenic Risk Scores and Social Determinants of Health across Populations

🎧 New PaperCast: how polygenic risk scores (PRS) and social determinants of health (SDoH) should be integrated across populations—best practices, harmonization, and ethics

https://basebybase.com/episodes/polygenic-risk-sdoh-harmonization

@ajhgnews.bsky.social

Nice to see this out! Great work by Kiran Kumar and Sebastian Zöllner!

Through in vitro and in vivo screening, @ajhgnews.bsky.social latest article identifies antimiR leads that boost MBNL1 levels, correct splicing defects, and improve muscle function, highlighting a promising therapeutic strategy for myotonic dystrophy type 1: https://bit.ly/4ramI83 #ASHG

TIME100 Health: Kiran Musunuru and Rebecca Ahrens-Nicklas Find out why they're on the TIME100 Health 2026 list.

Congratulations to ASHG members @kiranmusunuru.bsky.social and Rebecca Ahrens-Nicklas, MD, PhD, who were named to the TIME100 Health List for pioneering the first personalized CRISPR therapy for an infant with a rare genetic disorder! Read their feature: https://bit.ly/40h3hzB

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program The application of genetic risk scores (GRSs) in newborn screening is in its infancy. This study demonstrates the feasibility of large-scale GRS-based screening for type 1 diabetes risk using whole-ge...

Another big step toward routine polygenic screening in the clinic & I'm really excited to keep up w/this project in the future. Short summary: newborns get WGS and a PGS is applied for T1D. High risk correlates with increased incidence and allows for early intervention. www.cell.com/ajhg/abstrac...

An ELSI-related event hosted by @geneticssociety.bsky.social

Authors Jessica Gold and Theodore Drivas will present their recent @ajhgnews.bsky.social paper, "Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population."

elsihub.org/event/explor...

Very happy to share our work with Seth Berger and UCI-GREGoR at @ajhgnews.bsky.social .

We developed and extensively evaluated a method - duoNovo - that uses long-read sequencing to detect de novo variants using *only one* biological parent. (1/n)

R package: github.com/sbergercnmc/...

Early Check Early Check is a voluntary study that provides free health tests to new babies.

Learn more about the Early Check program! earlycheck.org

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program The application of genetic risk scores (GRSs) in newborn screening is in its infancy. This study demonstrates the feasibility of large-scale GRS-based screening for type 1 diabetes risk using whole-ge...

🧬 New from Gaddis et al!
📄 Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program

MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes MetaGLIMPSE is a meta-imputation method that improves rare-variant detection in low-coverage sequencing by combining multiple reference panels—without sharing individual genotype data. It outperforms ...

📣New from Kumar & co!
📄MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes
🖥️ github.com/karinkumar/M...

Mind the gap: Characterizing bias due to population mismatch in two-sample Mendelian randomization We demonstrate that differences between populations can lead to biased causal effect estimates in Mendelian randomization (MR), a causal inference method based on genetic data. We provide a broad empi...

📣New from Li & Morrison!
📄Mind the gap: Characterizing bias due to population mismatch in two-sample Mendelian randomization

Identification of de novo variants from parent-proband duos via long-read sequencing Determining de novo status is often what upgrades a variant from VUS to pathogenic, but it has not been possible without sequencing both biological parents. We developed, extensively evaluated, and ap...

🧬 New from @leandrosboukas.bsky.social & co
📄Identification of de novo variants from parent-proband duos via long-read sequencing
🖥️ github.com/sbergercnmc/...

Our March issue is online!
Revisit #ASHG25 with the Presidential and awards addresses & then catch up with the latest human genetics & genomics research!
www.cell.com/ajhg/current

Great to see this work out, led by Jon Rosen and co-supervised Karen Mohlke @klmohlke.bsky.social!

Connecting to some recent threads here:

Are you interested in understanding how social and structural determinants of health influence estimates of genetic risk? Looking for figures for teaching these concepts?

Check out our work on considerations for modeling them together, led by Sara Cromer and Dave Conti with @prsmethods.bsky.social

Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research Despite increasing focus on the intersection of genetic and social risk factors on health, heterogeneity in how these factors are measured, distributed, and analyzed across populations and datasets co...

🧬 New Review from Cromer et al!
📄 Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research
#PRS #SDoH

Higher eQTL power reveals signals that boost GWAS colocalization Rosen et al. quantify how eQTL study sample size influences signal discovery and GWAS colocalization. Integrating evidence from recent eQTL studies, they show that limited statistical power influences...

🧬 New today!
📄 Higher eQTL power reveals signals that boost GWAS colocalization
🧑‍🤝‍🧑 @mikelove.bsky.social @klmohlke.bsky.social & colleagues

David Botstein, a titan within the scientific community, died last week. GSA mourns his passing and celebrates his legacy.

Read more about his significance to our community in this thread ⬇️🧵

Capa do episodio Base by Base: Episode 306: SAXO6 loss-of-function in photoreceptor cilia links a microtubule inner protein to late-onset retinal dystrophy

🎧 New study links biallelic SAXO6 loss-of-function, a microtubule inner protein of photoreceptor cilia, to late-onset retinal dystrophy — Listen now

https://basebybase.com/episodes/saxo6-photoreceptor-mip-retina

@ajhgnews.bsky.social

This Rare Disease Day 🧬, we share how GREGoR 🫛 bridges the diagnostic gap in rare disease by developing and applying cutting-edge technologies to discover the causes of unsolved genetic disorders and sharing data to accelerate discovery. 🎯

#GREGoR #NIHResearch #RareDisease

Why Study Rare Disease? JAX's Nadia Rosenthal Talks "Rare to Common" Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.

For Nadia Rosenthal, scientific director at JAX, the lesson is clear: “Rare diseases often give us a clear window into the fundamental workings of biology, and what we see through that window can tell us about much more widespread conditions.” 🧪 🧬 #RareDiseaseDay https://go.jax.org/nadia-yt-social

To gain insight into vascular disease processes attributable to alternative splicing, the authors of @ajhgnews.bsky.social's latest article modeled inflammation in endothelial cell lines, revealing that alternative promoters are key regulators of transcript variety: https://bit.ly/4rwhvbD #ASHG

How to create personalized gene editing platforms: Next steps toward interventional genetics How do we go from a single individual receiving a personalized gene-editing therapy to a future of “interventional genetics” in which such therapies are the standard of care? First and foremost: regul...

In this article, SCGE researchers discuss their ideas for a future of “interventional genetics”, in which personalized gene-editing therapies are the standard of care.

www.cell.com/ajhg/fulltex...

#RareDisease #PersonalizedMedicine #RegulatoryInnovation #GeneTherapy

Thrilled to share that our paper on a novel IRD gene has been published in The American Journal of Human Genetics (AJHG)! 🎉 This wouldn’t have been possible without the incredible group of colleagues and collaborators. Special thanks to @computingcaitie.bsky.social, Ditta Zobor, and ERDC members!

Proud to share our new publication in The American Journal of Human Genetics, establishing NRDC as an essential gene for early human brain development and providing long-awaited molecular diagnoses for affected families! Thank you for all contributors!
www.cell.com/ajhg/fulltex...

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy Photoreceptors are neurons in the retina that are responsible for detecting light. We identified pathogenic DNA variants in SAXO6 in individuals with progressive blindness and discovered that SAXO6 is...

📣Online now!
📄 Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy
🧑‍🤝‍🧑 @abimoye.bsky.social @mquinodoz.bsky.social
@carlorivolta.bsky.social & co
🚨SAXO6 was previously known as MDM1

🧬 New IRD gene identified!
IOB researchers (@abimoye.bsky.social, @mquinodoz.bsky.social, @carlorivolta.bsky.social) found pathogenic variants in SAXO6 (formerly MDM1) in families with a rare late-onset retinal degeneration.

🔗 www.cell.com/ajhg/fulltex...

#AcademicBlueSky

So what’s SAXO6 doing?