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#ResearchLetter SimPub #ESCCongress: Proteomics in #HFrEF trials (ATHMOSHERE and PARADIGM-HF) finds 167 proteins predicting HF events including the novel biomarker SVEP1 Jon Cunningham scottdavidsolomon #AHAJournals ahajrnls.org/3QXnSTl

Powerful new proteogenomic resource from UKB PPP mapping rare missense and PTV effects on plasma protein abundance. Query cis-pQTLs and trans-pQTLs in open source browser here: astrazeneca-cgr-publications.github.io/pqtl-browser/ biorxiv.org/content/10.110…

Beautiful story of how human population genetic and proteomic studies have led to the discovery of SVEP1 as the natural ligand of the receptor PEAR1. It's been a while since I read such a fantastic paper. 🧵 nature.com/articles/s4146…

A 🧵 on some of my intuitions/priors about the genetics of complex and molecular traits in humans (i.e. what I think of as typical), largely motivated by GWAS/QTL studies over the past decade [citing papers with nice figures where possible]

🔈NEW RESEARCH: Published today in the JAHA, our analysis shows HoFH is being missed in the US, leading to premature and aggressive cardiovascular disease in young people. #KnowFH #KnowHoFH #LDLSafeZone ahajournals.org/doi/10.1161/JA…

New article! Read A flexible symbolic regression method for constructing interpretable clinical prediction models in npj Digital Med dlvr.it/SqBf8C

In 2019, a Mendelian randomization paper in NEJM suggested that ACLY is a good drug target for LDL. I am still not convinced that it tells us anything about ACLY. nejm.org/doi/full/10.10…

Excited to share our latest preprint introducing SAIGE-QTL, a powerful tool for single-cell eQTL analysis! Check it out here: medrxiv.org/content/10.110… #eQTL #scRNAseq #genomics (1/9)

We use Multiome and HiC to build a comprehensive single cell variant to enhancer to gene map for coronary artery disease. Join effort with Paul Chungroh Lee and IttaiEres in Nate Stitziel Lab and in collaboration with Amgen 🧪🔬🧬 Test Account medrxiv.org/content/10.110…