Amid the hype of using polygenic scores for embryo selection, some thoughts on their implementation potential in real-world settings (and problems)👇

Of all possible uses, is screening embryos for their genetic IQ score really the first implementation step for polygenic risk scores?.

Why do some papers bury the fact that the entire study is in mice in the title or abstract? . Don’t make me hunt for the full-text. Feels like clickbait.

It is cool how population-based genotyping allows us to re-consider the phenotypic spectrum of theoretically "well-characterized" genetic disorders. 🔗link to study: .🔓open-acces preprint version:

👉74% of 47XXY, 99% of 47XYY, and 93% of 47XXX were clinically undiagnosed ❗️.👉associations with cardiovascular (esp. venous thromboembolism) & neuropsychiatric outcomes (esp. anxiety & depression).👉no increased cancer risk.👉surprising doubling in risk of glaucoma

Sex chromosomal trisomies (47XXY, 47XYY, 47XXX) often remain undiagnosed forcing us to study only part of their phenotypic spectrum. Merging population-based data from 1.5M individuals (UKB, FinnGen, MVP) this PheWAS study tests phenotypic effects across the disease spectrum👇

I do believe that most future biomarkers (predictive, diagnostic, prognostic, treatment response) are going to be multiomic or multimodal signatures. Clinical practice will need to evolve toward this. 🔗link to study:

The proteomic signature .👉discriminated ALS cases from both healthy controls & controls with other neurological diseases.👉was not only driven by the known NfL protein (although this was the top hit).👉predicted time at symptom onset in asymptomatic patients

Most people know that ALS is a deadly disease. But most don't know that an ALS diagnosis is often missed at early disease stages due to lack of specific biomarkers. Now, a plasma proteomic signature of 33 proteins (based on Olink Explore) achieved discrimination of >95%!

🔗link:

🔗a good weekend read:

Genome sequencing has revolutionized our understanding of biology, how we pursue biomedical research & and increasingly medical diagnostics. This historical perspective reviews advances in sequencing technologies & analytics since the completion of the Human Genome Project.

🔗link to paper: 🔓open-access preprint version: .📊all data (incl. images) available at: .👩‍💻instructions/code:

The JUMP Cell Painting resource includes morphological quantifications of human U-2 OS cell images after perturbations of 75% of the protein-coding genome.👉overexpression of 12,609 genes with ORFs.👉knockout of 7,975 genes with CRISPR-Cas9

RT @MinSeoKim_MD: 🎉Delighted to share the preprint on the association between ACE inhibition and Alzheimer's disease (AD). Key take-aways:….

🔗link to the study: 📊summary stats:

A neat example of how tissue pQTLs & eQTLs can complement the interpretation of GWAS data for complex traits. The study links GWAS loci for kidney function & hypertension to gene & protein expression in kidney tissue. It's also a great resource for further downstream analyses.

🔗link to study: 📊summ stats: .• EUR-pQTL: • AFR-pQTL: • EUR-mQTL: • AFR-mQTL:

A new protein and metabolite QTL resource for plasma from 2338 European and 417 African ancestry individuals. 👉SomaScan 7k & Metabolon HD4.👉954 pQTLs & 65 mQTLs in African ancestry.👉2848 EUR pQTLs & 490 mQTLs in European ancestry

🔗link to study: