bioinfo-statistics

AbstractAtherosclerosis, a major cause of cardiovascular diseases, is characterized by the buildup of lipids and chronic inflammation in the arteries, leading to plaque formation and potential rupture. Despite recent advances in single-cell transcriptomics (scRNA-seq), the underlying immune mechanisms and transformations in structural cells driving plaque progression remain incompletely defined...

https://www.nature.com/articles/s41591-025-03945-8#citeas AbstractAlthough genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program—an observational study assessing the feasibility and clinical utility of genomic NBS in North Carolina. Recruitment was st..

Costanzo, M.C., Harris, L.W., Ji, Y. et al. Realizing the promise of genome-wide association studies for effector gene prediction. Nat Genet (2025). https://doi.org/10.1038/s41588-025-02210-5 몇가지 생각들 - Variant의 effector gene prediction (variant의 영향을 밝히는 것)과 variant를 활용해 gene-disease 관계를 밝히는 것(mendelian randomization 등)은 약간 다른 문제임- GWAS 결과 상 어떤 유전자에 coding region에 variant가 있고 protein altering va..