@artwuster

Head of Statistical Genetics at BioMarin. Genetics and genomics, coding and decoding, sequences and consequences.

 San Francisco Bay Area
Joined December 2011
  • Tweets2.4K
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78Media
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/S0002…

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants

Germline de novo variants in SLC6A1 are a major cause of neurodevelopmental disorders, including seizures. Enrichment for missense variants, many of which are recurrent, suggests a gain-of-function...

cell.com
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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…

Human Genome Sequencing Cost in 2031

Metaculus is an online forecasting platform and aggregation engine working to improve human reasoning and coordination on topics of global importance.

metaculus.com
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Congratulations to the ultimate fan of #eshg2024 ! 💇🏻🧬 👏🏻
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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
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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
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CAG repeat expansions are associated with already expanded CAG in parents, parental age. Paternal transmissions are more likely to be unstable #eshg2024
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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!
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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
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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/ne…
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Art Wuster retweeted
AJHG@AJHGNews22 May 2024
📢New from Sanders, Wuster & colleagues 📰Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants cell.com/ajhg/fulltext/S0002…

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants

Germline de novo variants in SLC6A1 are a major cause of neurodevelopmental disorders, including seizures. Enrichment for missense variants, many of which are recurrent, suggests a gain-of-function...

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

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linkedin.com
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Great #ACMGMtg23 talk on reimplantation embryo selection using PRS by @patrickaturley: Babies are already being born with this technology. Magnitude of expected benefit is debatable (doi.org/10.1056/nejmsr210506…)
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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 @ibarrioh et al. an @OpenTargets project nature.com/articles/s41588-0…

Network expansion of genetic associations defines a pleiotropy map of human cell biology

Nature Genetics - Network expansion of trait-associated genes for 1,002 human phenotypes identifies pleiotropic gene modules and biological processes associated with multiple traits, and potential...

nature.com
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embo.org/press-releases/sara…

Sarah Teichmann receives the FEBS | EMBO Women in Science Award 2023 – Press releases – EMBO

She is recognized for outstanding achievements in single-cell genomics and immunology as well as inspiring future generations of female scientists

embo.org
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