Authors of @ajhgnews.bsky.social's latest article use ancestral recombination graph inference to trace the history of rare variants in Quebec. This approach could be used to inform rare disease screening programs across founder populations: www.cell.com/ajhg/abstrac... #ASHG #HumanGenetics

📣 New from @yosephbarash.bsky.social & co! 📄 A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease 🖥️ bitbucket.org/majiqtl/maji...

📣 New from Stinson et al. 📄 Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit

"How to create personalized gene editing platforms: Next steps towards interventional genetics" spkl.io/63326AbgN6 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social @ajhgnews.bsky.social

🚨Proud to have co-authored this paper with an incredible team! We propose practical reporting standards to improve transparency, reproducibility, and data stewardship in paleogenomics 🧬🦴

The pharmacogenetics community needs transparent, evidence-based gene-drug guidelines. @ajhgnews.bsky.social' latest article outlines @cpicpgx.org’s framework to assign allele function & encourages global feedback to boost clinical adoption: www.cell.com/ajhg/abstrac... #ASHG

Our November issue is out! Check out the latest human #genetics & #genomics research 👉 www.cell.com/ajhg/current

📣 New from @dnatimetravel.bsky.social & co! 📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses 👉 bit.ly/494k2ni

📣New from Park & Xing! 📄Origins and implications of intron retention quantitative trait loci in human tissues

📣New today! 📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function [email protected]

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

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!

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 !!

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

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

#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-...

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

📣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...

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

#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.

📣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

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

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

🥳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!

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

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

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!

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. PF Liu et al @bcmhouston.bsky.social @bcmgenetics.bsky.social @ajhgnews.bsky.social www.bcm.edu/news/researc...

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…#ASHG2525

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

Interested in learning more about this topic? Check out these previous papers related to this session published in @ajhgnews.bsky.social: 📄 bit.ly/3IPKHt4 📄 bit.ly/48bStYG #ASHG

To learn more about the science behind this topic, check out these articles from @ajhgnews.bsky.social & @hggadvances.bsky.social : 📄 bit.ly/3WmxJGk 📄 bit.ly/3WitXOh #ASHG

Thanks to @geneticssociety.bsky.social, if you are coming early to #ASHG25 you can show your badge at the Boston Museum of Science and get in free! Stop by for your badge first and then head over if you are not going to any of the workshops, before Sarah Tishkoff’s presidential address at 4:30pm.

Are you heading to #ASHG25 next week? Come chat at ASHG Central each day 3-4pm!

I finally made (it on) my first cover 🤣 🥳!! Congratulations to @hggadvances.bsky.social, and all my fellow co-editors, for establishing a great genomics journal. And to all authors: if your manuscript still needs a home, consider submitting with us. We would be delighted to handle your paper 🫶 💪.

5 YEARS of HGG Advances! Mike, Jessica, Sara, and so many others have done such a fantastic job in shaping and expanding the journal. Please consider submitting your work in genetics/genomics with us!

📣New from Zhao et al! 📄The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

This work, led by my excellent graduate student Grahame Evans, was so much fun to do. we expanded the PRIMUS/PADRE relatedness tool suite to a new and improved all-in-one, scalable and user friendly tool, COMPADRE. Tools for genetic relatedness will always be one of my most fav parts of our work.

🚨Mark your calendars! 📖 The next online @elsihub.bsky.social Journal Club will discuss a recent AJHG paper!! Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research 🗓 October 31, 2025 | 🕛 12–1 pm ET 📍 Register here: tinyurl.com/bmnmkek5

📣New from @piperbelow.bsky.social & co! 📄COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction

Our October issue is online! Check out the amazing cover from @comfortandadam.bsky.social to commemorate 5 YEARS of HGG Advances! www.cell.com/hgg-advances...