@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
Congratulations to the ultimate fan of #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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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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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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Art Wuster retweeted
M. Madan Babu@m_madan_babu9 Feb 2023
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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Does it matter whether a disease biomarker has strong genetic drivers? pubmed.ncbi.nlm.nih.gov/2514… I often think about this paper that suggests the use of "personalized" cutoffs eg: if you have genetically high CRP then maybe high CRP levels in you aren't a reflection of infammation

Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized...

Ideal biomarkers used for disease diagnosis should display deviating levels in affected individuals only and be robust to factors unrelated to the disease. Here we show the impact of genetic,...

pubmed.ncbi.nlm.nih.gov
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Combining genetics and metabolomics can provide tractable insights into disease causation. Here's our recent work in this field from @CYiheng and team using a large Metabolon dataset from @clsa_elcv in @NatureGenet nature.com/articles/s41588-0…

Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases

Nature Genetics - Genome-wide association studies comprising 1,091 metabolites and 309 metabolite ratios in 8,299 individuals from the Canadian Longitudinal Study on Aging provide insights into the...

nature.com
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Art Wuster retweeted
Dadi@Dadi_Gao28 Oct 2022
Replying to @artwuster
Um… It is actually the opposite. Reproducibility is measured by the revertion of the rank of variance. E.g. i-Neuron has the lowest variance among the three, indicating it has the highest reproducibility.
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Jeremy McRae #ASHG22: Variant interpretation tools improve target discovery power. Doing a rare variant burden test using PrimateAI-3D finds more significantly burdened genes than just counting missense and loss-of-function variants when analyzing the UKB data.
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Madelynn Whittaker at #ASHG22 presenting an epigenome editing approach to reduce PCSK9 expression. Guide RNAs target sequences in promoter. Preclinical results suggest substantial and long lasting reduction.
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#ASHG22 Nicholas Popp presented an elegant model to do V2F of secreted proteins (SP). SP are incompatible with typical functional characterization methods, they represent 10% of all genes, 25% are associated with disease, for example F9.
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RH: a total of 7 gene-phenotype tests from known example in literature. For some of these (e.g. KCNQ1-height and KCNQ1-T2D), maternal burden p-value is better and nominally significant to paternal burden. But not all cases work out - perhaps power is insufficient. #ASHG22
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Two plenary talks into #ashg22 and two talks leveraging @uk_biobank. The impact of UKB on our understanding of human genetics is truly staggering.
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This is brilliant. youtu.be/yDcaRklX7q4
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The Tripitaka Koreana - carved on 81258 woodblocks in the 13th century - is the most successful large data transfer over time yet achieved by humankind. 52 million characters of information, transmitted over nearly 8 centuries with zero data loss - an unequalled achievement. 1/
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Art Wuster retweeted
Shai Carmi@ShaiCarmi30 Aug 2022
Paper examining the distribution of PRS for coronary artery disease in the UK and Estonian biobanks. Not much new, but a good summary of current knowledge about risk models. Key points below. link.springer.com/article/10…
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