Carlo Maj

AlphaVaR structures AlphaGenome's per-track variant scores in R and adds multiple-testing-corrected enrichment and shift tests, a tissue-specificity index and transparent ranking; on rs1427407 it recovers BCL11A erythroid-enhancer biology.

The paper describes the curation and initial analysis of molecular genetic and epigenetic data from the TwinLife study, highlighting associations between polygenic scores and attrition, and stability of epigenetic clocks in saliva.

This study shows that individuals of Indian ancestry with high genetic risk for obesity can reduce their risk through favorable lifestyle choices, as demonstrated in two cohorts.

The paper uses single cell RNA-sequencing and genome-wide association study data to identify cell types and processes involved in Barrett's esophagus and esophageal adenocarcinoma risk.

The paper analyzes gene interaction networks across polygenic traits, finding higher connectivity in trait-associated genes and weaker selective constraints in highly connected networks, and develops an online portal for hypothesis generation.

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

The paper updates a polygenic index repository with more phenotypes, datasets, and improved causal inference methods, enhancing predictive performance and interpretability.

This study shows that GBA1 variants increase Parkinson's disease risk, with severe variants having higher risk than risk variants, and polygenic scores further increase this risk.

This paper investigates how polygenic risk scores (PRS) transfer between populations by simulating demographic changes and dominance coefficients, finding that recessive traits are more conserved.

This study uses Mendelian randomisation to identify causal risk factors for eight cancers, finding both well-established and novel molecular factors.

This paper compares ancestry-specific and multi-ancestry polygenic risk scores for LDL prediction in East Asian populations using UK Biobank and Taiwan Biobank data, finding that multi-ancestry models are more generalizable.

This study evaluates the ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome individuals, finding weak associations in specific subgroups.

The paper assesses the transferability of European-derived polygenic risk scores for cardiometabolic diseases in South Asians and examines their interaction with family history.

This paper introduces an efficient boosting algorithm for polygenic risk scores, showing improved computational efficiency and prediction accuracy compared to existing methods.

The paper applies statistical learning methods to develop sparser polygenic models for LDL-cholesterol prediction using UK Biobank data, showing competitive performance compared to classical approaches.

This study identifies a new susceptibility locus for severe COVID-19 through a detailed GWAS analysis in European populations, focusing on genetic variants associated with disease severity.

This study assesses how polygenic risk scores, high-impact monogenic variants, and family history influence breast and prostate cancer risk using UK Biobank data.

This study examines how polygenic risk scores influence the penetrance of monogenic Parkinson's disease variants and family history in Parkinson's disease risk.