Elena Vigorito

The paper evaluates eQTL-GWAS colocalisation studies, finding that 34-50% of GWAS hits colocalise, with trade-offs between granularity, sample size, and colocalisation detection.

The paper identifies trimodal QTLs that jointly affect enhancer accessibility, promoter contacts, and gene expression in monocytes, revealing genetic links between enhancer activity and chromatin boundaries.

ShaPRS improves polygenic score accuracy by leveraging shared genetic effects across traits or ancestries, enhancing performance for complex diseases and across populations.

BBmix improves genotype calling from RNA-sequencing by modeling RNA-specific biases, achieving higher accuracy in heterozygous calls compared to existing methods.

RapidoPGS computes polygenic scores using only summary GWAS data without needing test datasets, achieving faster performance than some existing methods.

EPISPOT improves molecular QTL mapping by integrating epigenetic annotations to detect and interpret genetic hotspots with greater statistical power and biological insight.

BaseQTL detects eQTLs from RNA-seq data with or without genotypes, showing consistent results and identifying a psoriasis-specific effect for GSTP1.