Flagship journal of the American Society of Human Genetics
https://www.cell.com/AJHG/home
Editor-in-Chief: @kiranmusunuru.bsky.social
The American Journal of Human Genetics
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🧬New from Mechol & colleagues!
📄Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
Remembering Pat Jacobs
Our June issue is online!
Check it out: www.cell.com/ajhg/current
🧬Online now!
📄Identifying condition-related cell-cell communication events using supervised tensor analysis
🧑🤝🧑 @epsteinstatgen.bsky.social @yjingj.bsky.social & Dai
🖥️ github.com/daiqile96/ST...
🧬New from @ahoischen.bsky.social & co!
📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
For those interested in studying cell-cell communication, check out our latest methodological work in AJHG where we discuss more powerful and practical techniques for this task. Project was joint effort with @yjingj.bsky.social and led by our incredible trainee Dr. Qile Dai (now at Lilly)
Congrats to all co-authors from out HiFi-Solves EMEA consortium!
www.pacb.com/hifi-solves/
This study was driven particularly by the great @bartvds.bsky.social; with important contributions from Hanno Jörn Bolz
Johannes Zschocke Malte Spielmann and their teams.
Authors of @ajhgnews.bsky.social's latest article present MARRVEL-MCP—a natural-language interface that equips LLMs with 44 genomic tools for rare disease variant interpretation: https://bit.ly/4nZd1cK
Learn more during our July 8 LIVE webinar with Hyun-Hwan Jeong, PhD: https://bit.ly/4nYuFgF #ASHG
@ajhgnews.bsky.social sat with Xinyu Sun, in the latest "Inside AJHG" to discuss his recently published paper, “Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer’s disease.” ➡️ https://bit.ly/4x82Uqg #ASHG #HumanGenetics
Developed by authors @yunfeng-ruan.bsky.social, @pnatarajanmd.bsky.social, & co. of @ajhgnews.bsky.social's latest article, DiscoDivas—a genetic-distance-assisted framework— improves PRS predictive performance for admixed individuals: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics
Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection
of all clinically relevant variant types in paralogous genes. It resolves “dark” regions
while enabling haploty...
Cell-cell communication (CCC) events coordinate physiological functions in multicellular
organisms and are important for exploring biological processes and disease mechanisms.
We introduce STACCato, a...
🧬New from @ahoischen.bsky.social & co!
📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Patricia Ann Jacobs died on the March 15, 2026, aged 91 years. In her late 80s, she
developed Alzheimer disease, and her final three years were spent in a nursing home
until she died shortly after suf...
www.cell.com
We identify five individuals from four unrelated families harboring bi-allelic loss-of-function
variants in TMEM63B with childhood interstitial lung disease and developmental delay.
Convergent data fr...
🧬Online now!
📄Identifying condition-related cell-cell communication events using supervised tensor analysis
🧑🤝🧑 @epsteinstatgen.bsky.social @yjingj.bsky.social & Dai
🖥️ github.com/daiqile96/ST...
Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection
of all clinically relevant variant types in paralogous genes. It resolves “dark” regions
while enabling haploty...
Cell-cell communication (CCC) events coordinate physiological functions in multicellular
organisms and are important for exploring biological processes and disease mechanisms.
We introduce STACCato, a...
