We are accepting applications for the next Editor-in-Chief of AJHG ! Join a tradition of scientific excellence and chart a course to shape the future of #humangenetics and #genomics. Apply here: apply.ashg.org/a/page/ajhg-eic #ASHG

New paper from incredible collaborator Dr. Siddharth Prakash evaluating rare genetic variants in young people presenting w/ BAV complications. Minimal genetic overlap between those w/ early-onset valve complications and those w/ hereditary thoracic aortic disease (like

🚨 New from Mansoorshahi et al. 📰Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications cell.com/ajhg/abstract/…

📢Online now! 📰Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa 🧑‍🤝‍🧑Carlo Rivolta Gavin Arno & co cell.com/ajhg/fulltext/…

🚨 Online now! 📰ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification 🧑‍🤝‍🧑Marco_Trizzino Lab Sam Barnada, PhD Lab E. Herrera & co cell.com/ajhg/fulltext/…

The application to become the Editor-in-Chief of AJHG closes NEXT FRIDAY, September 13! Take the helm of #ASHG’s premier publication and make a lasting impact in human genetics and genomics. Apply now: apply.ashg.org/a/page/ajhg-eic #HumanGenetics

1/3 of disease-causing variants are estimated to alter gene splicing🧬 👉Important effort to sum published data of experimental splicing validation 👉50,000 variants in 8,000 genes 📊Database: SpliceVarDB compbio.ccia.org.au/splicevardb/ 📰Paper: cell.com/ajhg/fulltext/… AJHG

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in AJHG 🧬 📖 cell.com/ajhg/fulltext/… #splicing #GeneChat

Awesome work from Patricia Sullivan’s PhD. All the splicing 😍 #GeneChat

Our September issue is online Check out the latest genetics & genomics research, thoughtful commentary & an AllofUsResearch roundup cell.com/ajhg/current

🚨 New today! 📰Implementation of a dyadic nomenclature for monogenic diseases 🧑‍🤝‍🧑ClinGen omim.org cell.com/ajhg/abstract/…

📢New from Jiang et al. 📰Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness 🐭🧬 cell.com/ajhg/fulltext/…

Congratulations to Philip Boone & Gregory Costain!!

👏👏Congratulations to Dominique L. Brooks & Yosuke Tanigawa !!!

The authors of AJHG' latest article identify cell-type-specific genetic regulation of RNA editing and alternative polyadenylation in human neurons and neural progenitor cells. Read the full article here: cell.com/ajhg/abstract/… #ASHG Jason Stein

A recent publication by Geoff Ginsburg in AJHG highlights the top 8 AllofUsResearch genomic data papers published since January 2023 that are helping to drive precision medicine forward! Check it out: allof-us.org/3XijpyO

It's an honor to receive AJHG's Outstanding Trainee Publication Award for our inclusive polygenic score paper! 📜 Paper: doi.org/10.1016/j.ajhg… 📰 MIT News: bit.ly/iPGS_news 🧵 Thread: x.com/yk_tani/status… 🎙️ Inside AJHG: ashg.org/careers-learni… x.com/AJHGNews/statu…

Congrats to Yosuke Tanigawa Yosuke Tanigawa for his #AJHG AJHG Outstanding Trainee Publication Award for his work on #InclusivePGS #PolygenicScores!

Online in AJHG is our renal cell carcinoma (#RCC) transcriptome- and proteome-wide association study lead by Diptavo Dutta that identifies potential molecular targets for downstream functional investigation cell.com/ajhg/fulltext/… Cancer Epi & Genetics