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融合 GWAS 汇总统计与外部信息的多基因风险惩罚回归AI 解读

Large-scale genome-wide association studies (GWAS) provide opportunities for developing genetic risk prediction models that have the potential to improve disease prevention, intervention or treatment. The key step is to develop polygenic risk score (PRS) models with high predictive performance for a given disease, which typically requires a large training dataset for selecting truly associated single nucleotide polymorphisms (SNPs) and estimating effect sizes accurately.…

IsoDOT：针对分类或连续协变量的 RNA 异构体差异表达与使用检验AI 解读

We have developed a statistical method named IsoDOT to assess differential isoform expression (DIE) and differential isoform usage (DIU) using RNA-seq data. Here isoform usage refers to relative isoform expression given the total expression of the corresponding gene. IsoDOT performs two tasks that cannot be accomplished by existing methods: to test DIE/DIU with respect to a continuous covariate, and to test DIE/DIU for one case versus one control. The latter task is not an…