#15 · Genomics
Transfer, kernel and penalized methods raise power in genetic association studies
The common thread is using auxiliary information or flexible penalized and kernel models to raise power in genetic and epigenomic association and prediction. tranScore transfers EUR-EAS summary statistics via genetic similarity to strengthen East Asian GWAS. GWKBR adds GWAS-informed priors to a Bayesian kernel model for genomic prediction, and GEiPRS models genotype-environment interactions in penalized polygenic risk scores. Spectral components from identity-by-descent graphs adjust for fine-scale structure, outperforming PCs in UK Biobank. Kernel multi-marker accelerated failure time tests handle left truncation and competing risks, while waveome applies Gaussian-process variable selection to longitudinal omics counts. The new element is adaptation to ancestry, survival, and temporal structure rather than standard single-marker designs.
Preprints
miREA: a network-based tool for microRNA-oriented enrichment analysis
miREA is a network-based tool with five edge-based enrichment methods using miRNA-gene interactions to infer pathway-level miRNA function, benchmarked across…
Direct pathway enrichment prediction from histopathological whole slide images and comparison with gene expression mediated models
Compares direct prediction of pathway enrichment from H&E whole-slide images against gene-expression-mediated models on TCGA-BRCA, finding direct prediction…
Identifying genes associated with phenotypes using machine and deep learning
Proposes an ML/DL pipeline classifying case/control from genotypes and ranking feature importance to prioritise phenotype-associated SNPs and genes,…
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