Art Wuster

There are haploinsufficiencies that are caused almost entirely by missense variants instead of truncating mutations. Those genes are more vulnerable to missense variants disrupting their function, and SLC6A1 is an example. Here's our paper: cell.com/ajhg/fulltext/…

Someone (not me) needs to write a Wikipedia entry on gnomAD @gnomad_project

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

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

Great talk by @eloise96wells: 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

CAG repeat expansions are associated with already expanded CAG in parents, parental age. Paternal transmissions are more likely to be unstable #eshg2024

What causes unstable transmission of the HTT CAG repeat? @AnupriyaDalmia looks at 22,830 transmissions of the HTT gene in the 100,000 Genomes cohort. 0.84% of transmissions are unstable #eshg2024

Great quote @ksamocha #eshg2024! average of 7 pathogenic variants per individual in @gnomad_project 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: @BaulacS' talk at #eshg2024 on somatic mutations in the mTOR pathway causing focal cortical dysplasia type II

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

@ercgrn @karls_es Thanks Eric!

Nice example of integrating human genetics, functional genomics and protein structure to understand disease biology. Congrats @artwuster @karls_es and team.

@kidneyomicsamps Thank you Matt!

@artwuster Congrats Art!

There are haploinsufficiencies that are caused almost entirely by missense variants instead of truncating mutations. Those genes are more vulnerable to missense variants disrupting their function, and SLC6A1 is an example. Here's our paper: cell.com/ajhg/fulltext/…

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

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

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

Ouch @AuctoresL

@Alexbateman1 Have you come across The Second Kind of Impossible by Paul Steinhardt, on the topic of aperiodic crystals? One of the best pop sci books I've ever read

Step aside Penrose. A new aperiodic tiling of the plane that only requires a single type of tile has been discovered. Very big news from the world of tilings! arxiv.org/abs/2303.10798

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…

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