Lavinia Paternoster

The paper introduces GPMap, a resource that maps genetic associations across traits and molecular measurements to identify pleiotropy and improve disease mechanism understanding.

GWASHub is a cloud-based platform for GWAS meta-analysis that automates data handling, QC, and analysis workflows to improve reproducibility and reduce researcher burden.

This study identifies 440 genes/proteins associated with atopic dermatitis severity through multi-omics analyses and highlights four with significant cross-evidence, including CEP85, which may contribute to severity via impaired phagocytosis.

The paper develops polygenic transcriptome risk scores (PTRSs) for atopic dermatitis using transcriptome-wide association studies and shows improved predictive accuracy when combined with traditional polygenic risk scores.

The paper presents the ISD map, an interactive resource modeling molecular mechanisms of psoriasis and atopic dermatitis, and identifies potential therapeutic targets through hypothesis generation.

This study uses Mendelian randomization to identify two proteins, CCL27 and TNFRSF14, that influence subsequent cardiovascular events after a stroke, suggesting inflammation as a contributing factor.

This paper reviews statistical methods to detect and adjust for collider bias in genetic and Mendelian randomization studies of disease progression using individual and summary-level data.

This study uses multivariable Mendelian randomization to show that higher bone mineral density causally increases osteoarthritis risk independently of body mass index.

This paper prioritises candidate causal genes at 25 atopic dermatitis GWAS loci using a novel pipeline called ADGAPP, identifying both known and novel candidates.

MendelVar prioritizes genes at GWAS loci by integrating Mendelian disease gene associations and phenotype ontologies to enhance gene annotation and drug discovery.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

This study identifies 24 genetic loci associated with facial shape variation in humans through GWAS and confirms 13 of them in a multi-ethnic cohort.

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

A rare SMAD9 mutation is linked to high bone mass, suggesting the BMP pathway as a potential osteoanabolic target.

The paper examines geographical stratification of genetic variants in UK Biobank data and its impact on genetic association analyses, finding that genetic risk scores show geographic structure and may introduce bias.

This study identifies over 50 new genetic loci associated with pulmonary function through a multiethnic meta-analysis of 90,715 individuals.

This study uses Mendelian Randomization to show that higher BMI causally increases the risk of psoriasis and eczema, with a stronger effect on psoriasis.

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

This study investigates the genetic contributions to gestational weight gain, finding that maternal common variants explain about 20% of variability, while fetal variants have a minor role.

The paper discusses challenges in using genetic epidemiology and Mendelian randomization to inform disease therapeutics, highlighting the gap between GWAS discoveries and therapeutic target identification.

LD Hub provides a centralized database and web interface for performing LD score regression on GWAS summary data to estimate SNP heritability and genetic correlations across traits.