Reimbursement, pt. 2

New insights into Phoenician genetic ancestry - it’s unique makeup is probably the result of a regular influx of diverse people connected by a “Mediterranean highway” maintained by trade between Phoenician outposts (Original paper www.nature.com/articles/s41...) 🧪 www.nature.com/articles/d41...

Ancient DNA reveals Phoenicians’ surprising genetic ancestry

Phoenician civilization thrived across the Mediterranean for more than 1,000 years.

nature.com

Prenatal DNA screening successfully predicts preeclampsia risk early in pregnancy, identifying tissue dysfunction months before onset. by Adil M, Kolarova TR (...) Shree R et 15 al. in Nat Med #MedSky 📖 read the article:

Preeclampsia risk prediction from prenatal cell-free DNA screening - Nature Medicine

Using 1,854 routinely collected clinical samples from early in pregnancy, with validation in an external cohort, low-coverage cfDNA sequence data identified distinctive features among those who developed preeclampsia.

nature.com

It’s out ! My first last author paper 🥰… We identified ARHGEF18 as a flow responsive protein participating in vascular barrier maintenance 🔬🧫 Congratulations to the whole team, especially Surya Batta, PhD at that time in the lab ! www.cell.com/cell-reports... @inserm.fr @cnrsbiologie.bsky.social

ARHGEF18 is a flow-responsive exchange factor controlling endothelial tight junctions and vascular leakage

Batta et al. identified ARHGEF18 as a flow-responsive RhoGEF with high phosphorylation-dependent activity under physiological shear stress and as necessary to maintain tight junctions by recruiting ZO...

cell.com

Let’s celebrating women and girls in science, today and everyday @unesco.org 10th anniversary this year.

The long awaited European guidelines for the use of Polygenic score for primary prevention of cardiovascular diseases are out! It took > 10 years from the first results proposing its use as additional screening factor among patients with intermediate CVD risk academic.oup.com/eurheartj/ad...

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease: A clinical consensus statement of the ESC Council on Cardiovascular Genomics, the ESC Cardiovascular...

Abstract. Genome-wide association studies have revealed hundreds of genetic variants associated with cardiovascular diseases (CVD). Polygenic risk scores (

academic.oup.com

My book, An Intuitive Primer on Effective Functional Genomics Study Design, is published! I’d really appreciate it if you could help spread the word, and I’d love to hear your thoughts and feedback. I hope people will find it useful. It’s available on Amazon: tinyurl.com/mx2hewen

UK Visa refusal for nonEU citizen to attend a workshop is unfair, especially when the student in question has a 3-yrs PhD contract in FR, all expenses covered, to participate in an @embl.org workshop, generously supported by @ec.europa.eu. These workshops should not happen in UK anymore. Period.

📣Excited to share our paper in Nature Genetics! rdcu.be/d7mo0 Do plasma proteins mediate obesity’s effect on CAD risk? →Using two-step proteome-wide MR, domain-aware MR, epigenomics & scRNA-seq, we prioritized endotrophin, cleaved from COL6A3, as a mediator & potential therapeutic target. A 🧵↓

Massively parallel reporter assays (MPRAs) testing >680,000 sequences combined with machine learning to improve regulatory element & variant effect prediction. Amazing work by @vagar.bsky.social, Fumitaka Inoue, @jshendure.bsky.social and many others as part of ENCODE. www.nature.com/articles/s41...

Massively parallel characterization of transcriptional regulatory elements - Nature

Lentivirus-based reporter assays for 680,000 regulatory sequences from three cell lines coupled to machine-learning models lead to insights into the grammar of cis-regulatory elements.

nature.com

Regulation of protein abundance in normal human tissues www.medrxiv.org/content/10.1... GTEx's proteomics analysis finally out. 700 samples across 5 tissues, nearly 2000 cis-pQTLs, protein-protein correlations and comparison to RNA/eQTL.

Bit of a standard moan - “epigenetic association studies” are *very* hypothesis / model different vs GWAS (genotype association studies) even though the process v similar (put DNA on arrays, call alleles/epi-alleles, do association with covariates). *completely* different

"its more of a comment than a question" Don't be this person. Use the Q&A to ask interesting things or give the speaker a chance to clarify/show of. If you want a turn you should have submitted a talk. #Conferences #Academia

Yes! We are hiring! Looking for highly motivated people to make good use of our #ERC_SyG money 💶! The project is super cool, and the people are the best!! There are plenty of opportunities for international collaborations, too! Please help us spread the word!

Yaara Tevet@yaaratevet.bsky.social · 2y ago

Karina Yaniv Lab at the Weizmann Institute is seeking PhD students and postdoctoral researchers. Come work with us!

I'm not a fan of the new splash screen on RStudio. Turn it off by adding a { display: none; } in the style block in resources/app/.webpack/renderer/splash/index.html. Details: https://nanx.me/blog/post/rstudio-splash-screen/

What a fabulous place for CardioVascular research! Thanks to everyone at #PARCC for being such wonderful hosts! I'm enjoying every minute of my time in Paris!

N Bouatia-Naji@n-bouatia-naji.bsky.social · 2y ago

@karinayaniv.bsky.social amazing and fascinating talk at #PARCC. A whole incredible world of lymphatic development in zebrafish models. Thank you!

@karinayaniv.bsky.social amazing and fascinating talk at #PARCC. A whole incredible world of lymphatic development in zebrafish models. Thank you!

It was a lot of fun @n-bouatia-naji.bsky.social! You’ve got wonderful colleagues at PARCC! #medsky #cardiosky

N Bouatia-Naji@n-bouatia-naji.bsky.social · 2y ago

I was so pleased to host @andrewlandstrom.bsky.social today #PARCC INSERM. With excellent scientific exchanges and impressive research seminar! Thank you for your visit!

I was so pleased to host @andrewlandstrom.bsky.social today #PARCC INSERM. With excellent scientific exchanges and impressive research seminar! Thank you for your visit!

If something affected ~40% of men & was associated with fatigue, poor sleep, anxiety, depression, decreased cognition, hair loss, and so much more We would >screen for it >believe and diagnose patients >have better treatments But if it’s women & children… jamanetwork.com/journals/jam...

Prevalence of Iron Deficiency and Iron-Deficiency Anemia in US Females Aged 12-21 Years, 2003-2020

This study examines prevalence of iron deficiency among females aged 12 to 21 years to inform future screening strategies for iron deficiency and iron-deficiency anemia.

jamanetwork.com

If you're working with Nightingale Health metabolomics data from UK Biobank, be sure to check out the excellent (and important) work @sritchie73.bsky.social and colleagues have done on its QC and normalisation: www.nature.com/articles/s41... ukbnmr on CRAN: cran.r-project.org/web/packages...

Quality control and removal of technical variation of NMR metabolic biomarker data in ~120,000 UK Biobank participants - Scientific Data

Scientific Data - Quality control and removal of technical variation of NMR metabolic biomarker data in ~120,000 UK Biobank participants

nature.com

Fellow Genetics professors - rejoice! This is pedagogy heaven: the paradigmatic epiallele in calico cats … is built on a cis-regulatory deletion, not a coding mutation! We can teach it all off 1 paper! 1. Woo 2. Hoooo!!! H/t @lianafaye.bsky.social www.biorxiv.org/content/10.1...

Molecular and genetic characterization of sex-linked orange coat color in the domestic cat

The Sex-linked orange mutation in domestic cats causes variegated patches of reddish/yellow hair and is a defining signature of random X-inactivation in female tortoiseshell and calico cats. Unlike th...

biorxiv.org

Happy Sunday morning. Ideal moment to introduce my activity. Interested in all Human and #Cardiovascular genetics, #PopGen, molecular genetics, #cellmodeling, #complexdiseases. Mid-career female PI navigating the challenge of keeping active research in France on female diseases. Give me a follow!

Thanks for the wonderful visit @n-bouatia-naji.bsky.social! It’s a long way to come from Inserm via #AHA24. From the science to the mentorship to the collaborations! @ahascience.bsky.social @erd2.bsky.social #CardioSky #medsky