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...

when did natgenet stop submitting articles to pmc on behalf of authors?

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...

Interestingly they are both right - partly - but the transcriptional noise and transposon repression is also mediated by H3K9me, so loss of mCpG has weak effect! in C elegans H3K9me does 70% of it (transcript degradation does the rest, no mCpG. Zeller et al NatGenet 2016.
doi: 10.1038/ng.3672.

It covers two projects:

Sushie, our multi ancestry fine mapping out in NatGenet this past summer.

jaxQTL, collaboration with Steven Gazal on sc-eQTL calling, preprinted and under review!

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

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