The American Journal of Human Genetics

The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function The Clinical Pharmacogenetics Implementation Consortium (CPIC) is dedicated to integrating pharmacogenetic testing into clinical practice by developing and disseminating peer-reviewed, evidence-based ...

📣New today!
📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
.@cpicpgx.org

Read more about how doctors at CHOP are advancing personalized gene editing therapy (tinyurl.com/23c5vzd9)

Personalized gene editing helped one baby: can it be rolled out widely? In a world first, a bespoke gene-editing therapy benefitted one child. Now reseachers plan to launch a clinical trial of the approach.

Read more about today's paper (tinyurl.com/23c5vzd9) from @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social that discusses regulatory innovation in the pathway toward interventional genetics!

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...

Can personalized treatment become the standard of care? Just published in @ajhgnews.bsky.social, @kiranmusunuru.bsky.social, MD, PhD, and @ahrensnicklas.bsky.social, MD, PhD, explore their vision for the future of interventional genetics: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics

Tune in soon to hear more from @kiranmusunuru.bsky.social & @ahrensnicklas.bsky.social !!

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 Rebecca Ahrens-Nicklas and Kiran Musunuru discuss the next steps towards creating personalized gene editing platforms.

Read the full paper at: www.cell.com/ajhg/fulltex...

@ahrensnicklas.bsky.social @kiranmusunuru.bsky.social

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...

🚨Online NOW!!
📄How to create personalized gene editing platforms: Next steps toward interventional genetics
🧑‍🤝‍🧑 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social

Fruit Flies Shed Light on How Human Alzheimer’s Risk Genes Impact the In a groundbreaking endeavor to unravel the genetic complexities underpinning Alzheimer’s disease, scientists from Baylor College of Medicine and the Jan and Dan Duncan Neurological Research I

#FruitFlies Shed Light on How Human #Alzheimer’s Risk #Genes Impact the #Brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmhouston.bsky.social @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social bioengineer.org/fruit-flies-...

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes The recessive Fanconi anemia phenotype is used to classify BRCA1, BRCA2, and PALB2 variants with respect to dominant hereditary breast-ovarian cancer syndrome. Phenotype-genotype analysis of 178 indiv...

📣 New from Johnatty et al!
📄BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict #breastcancer risk in heterozygotes

Using the ancestral recombination graph to study the history of rare variants in founder populations This study statistically traces the transmission history of rare alleles within genealogies to impute carrier status and regional allele frequencies. It uses the approach to find that imputed carriers...

📣New from Mejia-Garcia et al.!
📄Using the ancestral recombination graph to study the history of rare variants in founder populations
🖥️ github.com/almejiaga/AR...

A graphic with the text, "Advancing Diagnosis of Rare Diseases, a webinar on November 6 from 11 AM to 1 PM Eastern Time."

Diagnosing #RareDiseases can be challenging, but new innovations, improved coordination, and system and policy-level approaches can improve #diagnosis.

Register for our upcoming workshop to learn about ways to address challenges in #RareDisease diagnosis: https://ow.ly/pXkz50Xjio3

Fruit flies offer new insights into how human Alzheimer’s Disease risk genes affect the brain Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital offer...

#FruitFlies offer new insights into how human #AlzheimersDisease risk #genes affect the #brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social www.bcm.edu/news/fruit-f...

This Friday! Join our Journal Club to discuss the implications of subcontinental genetic variation.

Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila We characterized 100 conserved Alzheimer disease risk genes in Drosophila, uncovering dozens with previously unknown roles in brain structure, function, and stress resilience. These findings reveal pa...

📣New from Deger et al! 🪰🧬
📄Revealing the nervous system requirements of #Alzheimer disease risk genes in Drosophila

📖 Join us for the next ELSI Journal Club session!
Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research
Published on @ajhgnews.bsky.social
🗓 October 31, 2025 | 🕛 12–1 p.m. ET
📍 Online via Zoom
🔗 Register here: us06web.zoom.us/meeting/regi...

🎉Spotlight on this year's Outstanding Trainee Publication Award winner Yu Fu
👉Role of X chromosome and dosage-compensation mechanisms in complex trait genetics
📄 tinyurl.com/53v4ucpa
📹 tinyurl.com/57ddavd9

🎉Spotlight on this year's Outstanding Trainee Publication Award winner Maria Palafox
👉Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
📄 tinyurl.com/yndpnk2w
📹 tinyurl.com/2b3enw28

Logica: A likelihood framework for cross-ancestry local genetic correlation estimation using summary statistics Logica estimates local cross-ancestry genetic correlation from genome-wide association study summary statistics via a bivariate linear mixed model that accounts for ancestry-specific linkage-disequili...

📣New from Gao et al!
📄Logica: A likelihood framework for cross-ancestry local genetic correlation estimation using summary statistics
🖥️ github.com/borangao/Log...

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder Bi-allelic variants in RPS6KC1 cause a neurodevelopmental disorder with features overlapping with Coffin-Lowry syndrome. Functional studies reveal impaired ribosomal protein synthesis, disrupted lipid...

📣New from Pujol & colleagues!
📄Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

ASHG 2025 Journal Award Winners! - YouTube

🥳Congratulations again to winners of the HGG Advances & @ajhgnews.bsky.social Outstanding Publication awards! Check out these videos to learn more about this group of inspiring young scientists!

A scalable framework for identifying allelic series from summary statistics COAST-SS extends the coding-variant allelic series test to operate on summary statistics: per-variant effect sizes, standard errors, and local linkage disequilibrium (LD). COAST-SS controls the type I...

ICYMI
📄A scalable framework for identifying allelic series from summary statistics
🧑‍🤝‍🧑 @zmccaw.bsky.social @twsoare.bsky.social & co

Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans Ploidy abnormalities affect over 1% of human embryos. Haploidy typically results from absent sperm DNA, while triploidy mainly arises from maternal meiosis II errors. Triploidy also shows a linear mat...

Online now!
📄Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans
🧑‍🤝‍🧑 @shaicarmi.bsky.social @eva-hoffmann.bsky.social & co

ASHG 2025 Journal Award Winners! - YouTube

Congratulations again to the winners of the AJHG &
@hggadvances.bsky.social
Outstanding Publication awards! Check out these videos to learn more about this group of inspiring young scientists!

A scalable framework for identifying allelic series from summary statistics Genes where a dose-response relationship exists between functionality and phenotypic impact are appealing therapeutic targets, as the effects of pharm…

We’re excited to share a new article from @insitro.bsky.social (first author @zmccaw.bsky.social) in @ajhgnews.bsky.social, introducing a summary-statistic-based implementation of the COding-variant Allelic Series Test, COAST-SS: www.sciencedirect.com/science/arti...

Researchers show benefit of ultra-deep RNA sequencing in Mendelian disorder diagnostics RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been...

Researchers show benefit of ultra-deep #RNA sequencing in #Mendelian disorder #diagnostics. PF Liu et al @bcmhouston.bsky.social @bcmgenetics.bsky.social @ajhgnews.bsky.social www.bcm.edu/news/researc...

A woman stands beside a large vertical poster at the ASHG Annual Meeting 2025 in Boston. The poster announces the AJHG Award for Outstanding Trainee Publication, recognizing contributions to human genetics. It features the conference logo and photos of two awardees, Yu Fu, MSc, and Maria Francis Palafox, PhD. The woman smiles and gestures toward the poster inside a modern, glass-walled convention hall.

FIMM congratulates Doctoral Researcher Yu Fu who has been awarded the @ajhgnews.bsky.social Award for Outstanding Trainee Publication this week @ #ASHG25!
Yu's awarded publication: Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.
www.ashg.org/publications...

Interested in using finemapping software that can handle the admixed populations Loic Yengo is emphasizing in his Presidential Symposium talk? Check out CARMA-X in @ajhgnews.bsky.social: doi.org/10.1016/j.ajhg… #ASHG25

Expert insights. Publishing tips.

Head to ASHG Central, booth #854, until 4 pm to chat with Michael Bamshad, MD, the current Editor-in-Chief of @hggadvances.bsky.social and @kiranmusunuru.bsky.social , the incoming Editor-in-Chief of @ajhgnews.bsky.social! #ASHG25

🎶🎶 Attention ASHG members! Head over to ASHG Central during the poster session to pick up an @hggadvances.bsky.social portable speaker! #ashg25

Come meet incoming EiC @kiranmusunuru.bsky.social in ASHG Central! Chat about your research & learn more about AJHG. #ashg25