Greater resolution linking GWAS hits to causality for human #obesity ASHG cell.com/ajhg/fulltext/…

🔬Explore how de novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. NIH NHLBI NCATS NICHD News (ORIP support through U54OD030165, R24OD031447) #ScienceTwitter #AcademicChatter pubmed.ncbi.nlm.nih.gov/38479391/

AJHG is now celebrating its 75th year with a series of bold predictions framing genetics and genomics for the future
hubs.li/Q02nwp240
#AJHGat75 AJHG @geneticssociety Karen Miga @eichleree

Thanks also to AJHG for such a great experience in submitting and finally publishing with them and to the reviewers who asked the right questions while enthusiastically welcoming our work.

I'm so excited our latest work on DNA methylation is now published on AJHG 🍾
I couldn't be more proud or enthusiastic about this one. Do you want to know why?
Long🧵incoming 1/9

📢New in AJHG!
📰Genome-wide DNA #methylation changes in human spermatogenesis
🧑‍🤝‍🧑Sandra Laurentino @sandralaurentino.bsky.social Lara Marie Siebert-Kuss & colleagues
cell.com/ajhg/fulltext/…

Providing new insights into ovarian cancer risks, AJHG' article from Simon Gayther, Paul Pharoah (R soul) 🇪🇺🇵🇬🇿🇦🇬🇧 & colleagues identified multiple ovarian cancer susceptibility genes and explored the functional significance of risk alleles for this deadly disease: cell.com/ajhg/abstract/…

Great thread from a recent AJHG author!

Polygenic risk scores: AJHG and Human Genetics and Genomics Advances joint collection
Highlighting recent research, commentary, & guidance aimed at improving the predictive power and responsible use of polygenic risk scores in research and clinical settings
hubs.li/Q02xf9wy0
ASHG

🚨 New from Daiane Hemerich et al.
📰 An integrative framework to prioritize genes in more than 500 loci associated with body mass index
cell.com/ajhg/fulltext/…

Mary Lyon FRS was born #OnThisDay in 1925. Lyon was the discoverer of X-chromosome inactivation, which the genetic process that leads to coloration like tortoiseshell cats. Read more about her discoveries in a new Royal Society Publishing biographical memoir: royalsocietypublishing.org/doi/10.1098/rs…

Our latest report from the host-pathogen genomic battlefield...

📢New from Ferguson et al.
📰Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of #Huntingtonsdisease 🧬🧬🧬
cell.com/ajhg/fulltext/…

📢New from Jacques Fellay & colleagues
📰Joint host-pathogen genomic analysis identifies #hepatitisB virus mutations associated with human NTCP and HLA class I variation
cell.com/ajhg/fulltext/…

📢 New publication alert!

'Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease' by Ferguson et al., 2024 AJHG 🧬 Mike Flower UCL Brain Sciences UCL Queen Square Institute of Neurology

sciencedirect.com/science/articl…

Read insights from early career researchers on their roadblocks, motivations and vision for #ECR equity
hubs.li/Q02rP2cN0
ASHG Spotlight: Equity in early career research
ASHG @ajhgnews and Human Genetics and Genomics Advances

Variations in #telomere lengthening genes may predispose some people to papillary #thyroidCancer @johnshopkins AJHG medicalxpress.com/news/2024-05-v…

📢New from Yang et al.
📰Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
cell.com/ajhg/fulltext/…

📢New from Hae Kyung Im 任慧耕 임혜경 Dezheng Huo & colleagues
📰A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for #breastcancer
👉bit.ly/3QALG1e

.AJHG' latest article from Anna Lewis et al. outlines how the eMERGE IV Network developed strategies to integrate polygenic risk scores into a genomic medicine framework that serves a diverse patient population: cell.com/ajhg/abstract/… #ASHG #GeneticsDiscoveries