Mario Falchi

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma

This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

Genetic impacts on within-pair DNA methylation variance in monozygotic twins capture gene-environment interactions and cell-type effects

The paper identifies vmeQTLs for blood DNA methylation variance in MZ twins, showing gene-environment interactions and cell-type effects relevant to immune disease.

The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria

This paper conducts a genome-wide association study in Nigerian sickle cell disease patients to identify genetic variants associated with fetal hemoglobin levels, finding significant associations at BCL11A and HBS1L-MYB and novel signals in the Nigerian cohort.

The genetics and epidemiology of N- and O- IgA glycomics

This study presents the first large-scale IgA glycomics dataset from twins, identifies shared and specific genetic loci influencing IgA and IgG glycosylation, and shows genetic conservation across ethnicities.

Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

The paper identifies X-linked genes that escape X-inactivation in twins across tissues, showing variability between individuals and suggesting genetic and environmental influences.

ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

The paper examines the association between adipose tissue ACE2 expression and cardio-metabolic risk factors, finding lower ACE2 levels linked to T2D, obesity, and inflammation-related cell type changes.

Self-reported symptoms of covid-19 including symptoms most predictive of SARS-CoV-2 infection, are heritable

The paper identifies heritable symptoms of SARS-CoV-2 infection using twin studies of self-reported symptoms from the TwinsUK cohort.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

YAMP: a containerised workflow enabling reproducibility in metagenomics research

YAMP provides a containerised workflow for analysing whole shotgun metagenomic data, ensuring reproducibility and ease of use across UNIX-like systems.

PopPAnTe: population and pedigree association testing for quantitative data

PopPAnTe is a Java program for association testing in related samples, handling both family data and genetic similarity-based analyses for quantitative omics data.