bioinfo-statistics

TEMR: Trans-ethnic mendelian randomization method using large-scale GWAS summary datasets: The American Journal of Human Geneticshttps://www.cell.com/ajhg/fulltext/S0002-9297(24)00415-4 읽은 이유최근에 유럽인이 아닌, 더 다양한 인종에서 대규모 유전체 데이터가 나오는 것을 봤다.이런 코호트들에서 질병 정보를 가지고 GWAS 분석 결과까지는 만들어낸다고 해도 , 전자체, 단백체 등 다양한 오믹스 데이터를 얻는 것은 또 굉장히 오래 걸리는 일일 거라는 생각이 들었다. 단백질 -> 질병 인과성에 대해 Mendelian randomization 분석을 할 때 ..

https://www.nature.com/articles/s41588-025-02169-3Nadig, A., Replogle, J.M., Pogson, A.N. et al. Transcriptome-wide analysis of differential expression in perturbation atlases. Nat Genet 57, 1228–1237 (2025). https://doi.org/10.1038/s41588-025-02169-3 Single-cell CRISPR screens such as Perturb-seq enable transcriptomic profiling of genetic perturbations at scale. However, the data produced by..

https://www.nature.com/articles/nature04240 Bustamante, C., Fledel-Alon, A., Williamson, S. et al. Natural selection on protein-coding genes in the human genome. Nature 437, 1153–1157 (2005). https://doi.org/10.1038/nature04240 AbstractComparisons of DNA polymorphism within species to divergence between species enables the discovery of molecular adaptation in evolutionarily constrained genes a..