@ajhgnews.bsky.social
Flagship journal of the American Society of Human Genetics
https://www.cell.com/AJHG/home
Editor-in-Chief: @kiranmusunuru.bsky.social
@bcmfromthelabs.bsky.socialReposted by @ajhgnews.bsky.socialResearchers have identified new genetic candidates that help explain why #autism is diagnosed more often in boys than in girls. H Zoghbi, @rmschu.bsky.social et al @ajhgnews.bsky.social @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social www.cell.com/ajhg/fulltex...
@bcmfromthelabs.bsky.socialReposted by @ajhgnews.bsky.socialNew genetic candidates help explain why #autism affects males more often than females. H. Zoghbi,
@rmschu.bsky.social explain in this interview. eurekalert.org/news-release... @ajhgnews.bsky.social @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social @eurekalert.bsky.social
@rmschu.bsky.socialReposted by @ajhgnews.bsky.socialI'm excited to finally publish my postdoctoral work in
@ajhgnews.bsky.social! This work was motivated by two big mysteries in autism research: 1) where and what are the undiscovered genetic components of autism, and 2) why are males diagnosed with autism more frequently than females?
@ajhgnews.bsky.social🧬New from @rmschu.bsky.social & co!
📄A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism
@geneticssociety.bsky.socialReposted by @ajhgnews.bsky.social@konradjk.bsky.social & colleagues of @ajhgnews.bsky.social's latest article introduce ALLSPICE, a new framework for identifying cross-phenotype effect-size heterogeneity and resolving the architecture of rare variant pleiotropy: https://bit.ly/4y3PHOA #ASHG #humangenetics
@sinaihealthtoronto.bsky.socialReposted by @ajhgnews.bsky.social🧬 An expert team led by Sinai Health's Dr. Jordan Lerner-Ellis has released recommendations in @ajhgnews.bsky.social to align genetic data sharing across Canadian clinical labs, strengthening patient privacy and professional trust.
Read the paper ➡️ https://bit.ly/4hr8SeJ
@ajhgnews.bsky.social🧬New from Lin et al! 📄Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I
@gregor-research.bsky.socialReposted by @ajhgnews.bsky.socialRegistration for the GREGoR Ancillary Session at #ASHG26 closes Oct. 8th! Find more information and register at gregorconsortium.org/events/grego...
@geneticssociety.bsky.socialReposted by @ajhgnews.bsky.social@ajhgnews.bsky.social is a home for discoveries, statistical methods, & ideas that move the field forward. Hear from Editorial Board member Loic Yengo, PhD, on why AJHG is a trusted destination for readers & researchers alike. Learn more & submit your work: https://bit.ly/46Qu4G #ASHG
@sinaigenhealth.bsky.socialReposted by @ajhgnews.bsky.social📰 Publication Spotlight
Can polygenic risk scores and family history work together to improve coronary heart disease risk prediction?
The Kenny Lab collaborated on this publication looking across the NIH-funded eMERGE Network and All of Us, which says yes.
@geneticssociety.bsky.socialReposted by @ajhgnews.bsky.socialIn @ajhgnews.bsky.social's latest article, the authors highlight recent progress integrating genomics into newborn screening programs & discuss persistent challenges in standardization, scale, and equity: https://bit.ly/3V6KiZn #ASHG #humangenetics #geneticsdiscoveries
@rjdlab.bsky.socialReposted by @ajhgnews.bsky.socialPleased to share a new paper with Ling Cai, demonstrating the use of population genomics to identify heterozygous variants in a cobalamin processing gene as a modulator of circulating vitamin B12 levels.
@ajhgnews.bsky.socialOur October issue is online--check it out!
www.cell.com/ajhg/current
@ajhgnews.bsky.social🧬New Research Letter!
📄MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort
@rjdlab.bsky.social
@ajhgnews.bsky.social🧬New today!
📄Effect heterogeneity reveals complex pleiotropic effects of rare coding variants
🧑🤝🧑 @konradjk.bsky.social @lukeoconnor.bsky.social & co
🖥️ github.com/atgu/ALLSPICER
@ajhgnews.bsky.social🧬New from Macintosh et al!
📄Integrating clinical diagnostics with #interventionalgenetics for neurodevelopmental disorders
@bcmfromthelabs.bsky.socialReposted by @ajhgnews.bsky.socialA novel approach to diagnose rare, complex #neurodevelopmentalDisorders has brought answers to undiagnosed families. H. Bellen, M. Deng, M. Wangler et al. @ajhgnews.bsky.social @bcmhouston.bsky.social @bcmgenetics.bsky.social #BRSK1 #fruitfly #genengnews www.genengnews.com/topics/omics...
@bcmfromthelabs.bsky.socialReposted by @ajhgnews.bsky.socialIntegrating multiple approaches allowed H. Bellen, M. Deng, M. Wangler et al. to diagnosis a rare, complex #neurodevelopmentalDisorder. @ajhgnews.bsky.social @bcmhouston.bsky.social @bcmgenetics.bsky.social @TexomeProject #BRSK1 #fruitfly www.bcm.edu/news/togethe...
@gregor-research.bsky.socialReposted by @ajhgnews.bsky.socialRegister for the GREGoR Ancillary Session at #ASHG26! The session "Putting the pieces together: Multi-Omic Data from the GREGoR Consortium, Variant Matching with seqr, and Analysis with AnVIL" will be held on 10/23 at 12 pm. Find more info at gregorconsortium.org/events/grego... and register by 10/8
@ajhgnews.bsky.social🧬🪰 New from Deng et al! 📄Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy
