Sonia Moreno–Grau

This study uses multi-ancestry admixture mapping in the UK Biobank to identify ancestry-associated disease loci, finding 13 genome-wide significant associations and four novel risk loci.

snputils provides a high-performance Python library for handling genetic variation and population structure data, improving efficiency and integration in genomic research.

The paper analyzes a Mexican FH cohort to show rare and common alleles in FH genes and a novel locus contribute to disease risk, with replication in UK Biobank.

This study evaluates polygenic risk score (PRS) performance across four ancestry groups for 14 diseases, finding that ancestry-specific PRS models improve accuracy and identifying cross-trait interactions.

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

This study validates and automates polygenic risk score (PRS) development for cardiometabolic diseases using direct-to-consumer genetic and phenotypic data, showing comparable performance to larger clinical datasets.

The paper integrates multi-omic data to identify genetic and microbiome factors associated with severe COVID-19, independent of ancestry and social factors.

This study uses Mendelian randomization to show that genetic risk for mosaic loss of chromosome Y (mLOY) increases AD risk in males, but not females, suggesting mLOY directly contributes to AD pathogenesis.

This study identifies increased homozygosity in Alzheimer's disease cases and detects a candidate recessive variant associated with amyloid metabolism.

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

The paper performs a genome-wide association study of dementia and its endophenotypes, identifying novel loci and causal networks related to Alzheimer's disease.