Key reads from last week on human genetics, multiomics, and precision medicine 🧵
1⃣New e/sQTL resource from TOPMed
In 14,324 whole blood & tissue samples the study detects cis- and trans-e/sQTLs and colocalizes them with 10,000 GWAS signals for 164 traits.
🔗 https://www.medrxiv.org/content/10.1101/2025.02.19.25322561v1
1⃣New e/sQTL resource from TOPMed
In 14,324 whole blood & tissue samples the study detects cis- and trans-e/sQTLs and colocalizes them with 10,000 GWAS signals for 164 traits.
🔗 https://www.medrxiv.org/content/10.1101/2025.02.19.25322561v1
Comments
In UK Biobank (N=492,567), the proportion of variance in all-cause mortality explained by the exposome vs. a polygenic risk score on top of age and sex was 17% vs. just 2%.
🔗 https://www.nature.com/articles/s41591-024-03483-9
Nutritional epidemiology is historically limited by the inaccuracy of self-reported diet. It is now possible to directly quantify food-derived DNA with metagenomic sequencing in stool samples
🔗 https://www.nature.com/articles/s42255-025-01220-1
In 3976 plasma samples from Chinese adults, the median correlation across 1,694 Olink and SomaScan-quantified 1-to-1 matched proteins was only 0.26. Whatever the two platforms measure is not the same
🔗 https://www.nature.com/articles/s41467-025-56935-2
In a population of 2,147 children & adolescents, 733 genetic variants were identified that influence levels of 433 proteins. Great resource for GWAS follow-up analyses — available pQTL data come from adults
🔗 https://www.nature.com/articles/s41467-025-56935-2
snRNA/ATACseq in 4 brain regions from infancy to adulthood (n=10). The study identifies cell-specific regulators of gene expression linking 41% of GWAS signals for neuro/psych traits to potential causal genes
🔗 https://www.nature.com/articles/s41588-025-02083-8
In 4 children (1-2.8 y) with AIPL1 severe retinal dystrophy, subretinal injection of rAAV vector carrying the human AIPL1 gene led from legal blindness to significant gains in visual acuity over 3.5 years
🔗 https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(24)02812-5/fulltext