embo.org/press-releases…

Now in peer-reviewed form - our study on network propagation of GWAS linked genes across >1000 human traits identifies aspects of cell biology that impact on multiple traits Iñigo Barrio et al. an Open Targets project nature.com/articles/s4158…

Great #ACMGMtg23 talk on reimplantation embryo selection using PRS by Patrick Turley: Babies are already being born with this technology. Magnitude of expected benefit is debatable (doi.org/10.1056/nejmsr…)

Would you like to apply human genetics to target discovery? Our Statistical Genetics team is hiring: linkedin.com/jobs/search/?c…. Message me if you'd like to meet at #ACMGMtg23 to learn more

Wanted: Scientist to join our Statistical Genetics group at BioMarin. Purpose: Discover targets. Requirement: Be good, especially at human genetics. Learn more and apply: careers.biomarin.com/job/san-rafael…

Ouch Auctores Publishing LLC

Lovely talk from Michael Tassia demonstrating a connection between POT1 mutations, LONG telomere length, and various forms of cancer risk. Studied clonal hematopoiesis - hypothesize that long telomeres sustain hematopoietic progenitors, thus propagating somatic mutations. #bog24

DC: the HLA II hetreozygosity signal is independent of PRS scores, so getting to 9% of risk (editorial, with some of this risk being GxE, where E is involved with smoking) #bog24

Diego Chowell shows that heterozygosity at HLA class II loci is associated with a reduced risk of lung cancer. Finds that heterozygosity in the binding groove is critical. LoH in HLA II (and I) is a tipping point. Argues immunogenetics plays a larger role than appreciated. #bog24

📢New from Sanders, Wuster & colleagues 📰Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants cell.com/ajhg/fulltext/…

Exciting new research, published today by AJHG assesses the function of a major genetic cause of neurodevelopmental disorders. Oxford_IDRM Read more: paediatrics.ox.ac.uk/news/new-resea…

Great quote Kaitlin Samocha #eshg2024! average of 7 pathogenic variants per individual in Genome Aggregation Database v4. Mostly for AR conditions but 734 LoF variants in 77 haploinsufficient genes. Dig deeper and 70% do not truly result in LoF: manual #curation important!

Recently, there are so many exciting results on somatic mutations causing diseases outside of cancer. Example: Stéphanie Baulac' talk at #eshg2024 on somatic mutations in the mTOR pathway causing focal cortical dysplasia type II

Congratulations to the ultimate fan of #eshg2024 ! 💇🏻🧬 👏🏻

Great talk by Eloise Wells: ASOs targeting 5' UTRs for haploinsufficiencies. 890 genes have evidence of a central 5' UTR exon, 66 of which are associated with neurological haploinsufficiencies. Example: GRIN2B #eshg2024

What will be the cost of sequencing a whole human genome in 2031?metaculus.com/questions/1137…

Someone (not me) needs to write a Wikipedia entry on gnomAD Genome Aggregation Database