Meet AJHG (@AJHGNews) author and researcher Lorin Crawford, PhD. Learn about their experience of publishing in AJHG and their research: https://t.co/0iYTvWJhiG #ASHG#HumanGenetics
Meet AJHG (@AJHGNews) author and researcher Zeynep Coban-Akdemir, PhD. Learn about their experience of publishing in AJHG and their research: https://t.co/j0NNUvbQYJ #ASHG#HumanGenetics
Seeking to improve PRS predictive performance for admixed individuals, @Yunfeng_Ruan, @pnatarajanmd, & co., authors of @AJHGNews' latest article, present DiscoDivas—a genetic-distance-assisted framework that interpolates PRSs across an ancestry continuum: https://t.co/ybQ5sCsKIW
Researchers at @bcmgenetics with the Undiagnosed Diseases Network, & international collaborators, identified a new genetic disorder tied to TMEM63B variants causing severe early-onset lung disease. Read more about the discovery published in @AJHGNews : https://t.co/9A7CI131m5
.@HGGAdvances latest article presents a multiomic study of idiopathic scoliosis that helps to elucidate disease mechanisms & enable therapeutic and biomarker development: https://t.co/3y7i953xQe #ASHG#HumanGenetics#GeneticsDiscoveries
.@AJHGNews 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://t.co/P1VOEis2th #ASHG
🧬New from Mechol & colleagues!
📄Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
https://t.co/vItleJOva5
Excited to share our new paper: Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder. Thank you to my co-authors, patients, & their families for making genetic disease discovery possible. @AJHGNews@bcmgenetics
https://t.co/Dc48ZXUM6n
New @AJHGNews paper from our team describing a new autosomal recessive disorder caused by #TMEM63B deficiency. A good example of how rare disease gene discovery depends on connecting clinicians and researchers who are each seeing only part of the picture. https://t.co/TYFFuZBNGd
.@ZhandongLiu, @hyunhwan_jeong & co of @AJHGNews latest article presents MARRVEL-MCP—a natural-language interface that equips LLMs w/ 44 genomic tools for rare disease variant interpretation: https://t.co/GWQu6FVYGH
Learn more during our 7/8 LIVE webinar: https://t.co/un2LpYnG4l
By integrating genetics and functional assays, @HGGAdvances' latest study identifies HAVCR1 as the effector gene at the hyperlipidemia-associated 5q33.3 locus, revealing how multiple regulatory mechanisms can converge on a single GWAS locus: https://t.co/62Azs5XHpa #ASHG