Art Wuster @artwuster
Head of Statistical Genetics at BioMarin. Genetics and genomics, coding and decoding, sequences and consequences. San Francisco Bay Area Joined December 2011-
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Someone (not me) needs to write a Wikipedia entry on gnomAD @gnomad_project
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What will be the cost of sequencing a whole human genome in 2031?metaculus.com/questions/1137…
Art Wuster retweeted
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
Art Wuster retweeted
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!
Art Wuster retweeted
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…
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/…
Art Wuster retweeted
📢New from Sanders, Wuster & colleagues 📰Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants cell.com/ajhg/fulltext/…
Art Wuster retweeted
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
Art Wuster retweeted
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
Art Wuster retweeted
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
@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
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
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