Multitrait GWAS for aortic valve (Area, Mean gradient, Peak velocity) in UKbiobank FinnGen▶️
166 loci▶️
Polygenic score for Aortic stenosis
HR=~3 for top 5% vs others in AllofUs or MGB biobank

HNF1A😁
PRDM16🤓
HAO1➡️Glycolate metab!?😈

@jamespirruccello.com #NatGenet 2025
www.nature.com/articles/s41...

A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform - Nature Genetics Genome-wide association analyses of blood plasma samples using a mass spectrometry-based platform illustrate the complementarity of different proteomics approaches for identifying protein quantitative...

A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform #NatGenet www.nature.com/articles/s41...

BRD4 stabilizes NIPBL (cohesion loading) on chromatin & maintains chromatin loops & genome folding

Wnt1+ Neural Crest Brd4 KO🐭
👉⏬ #SmoothMuscleCell on aortic arch e11.5, aorta & pulmonary artery e14.5
👉Craniofacial defects
👉100% perinatal lethality

#NatGenet 2021
www.nature.com/articles/s41...

popV/popular Vote

Automated #CellTypeAnnotation

Measures of Intrinsic & Extrinsic Uncertainty
Extrinsic: agreement of 8 prediction algorithms
Intrinsic: classifier score of each algorithm

RF SVM Celltypist OnClass KNN+Scanorama/BBKNN/scVI/scanVI

#NatGenet 2024
www.nature.com/articles/s41...

Mass spectrometry-based mapping of plasma protein QTLs in children and adolescents - Nature Genetics Mass spectrometry-based proteomics demonstrated its increasing analytical power and unique strengths in measuring genome-wide plasma proteomes and identifying protein quantitative trait loci (pQTLs), ...

Mass spectrometry-based mapping of plasma protein QTLs in children and adolescents #NatGenet www.nature.com/articles/s41...

2X #DilatedCardiomyopathy GWAS MATG #NatGenet 2024 reveal novel genes/cellular players

PROX1 - #LymphaticEndothelialCell
ERG - #EndothelialCell
DGKG - #SmoothMuscleCell
MAPT/Tau validated in both studies

>9k case
www.nature.com/articles/s41...

>14k case
www.nature.com/articles/s41...