Luca Andrea Lotta

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

The paper compares the effectiveness of whole genome sequencing, whole exome sequencing with imputation, and array genotyping in detecting genetic associations across 100 complex traits in the UK Biobank, finding that WES+IMP provides similar signal yield to WGS with greater efficiency.

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

This study uses exome sequencing of 628,388 individuals to identify genetic variants associated with clonal hematopoiesis and its health outcomes.

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

The paper conducts a genome-wide association study of liver fat, iron, and extracellular fluid fraction using UK Biobank MRI data, identifying novel genetic loci for these traits.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

This study identifies serine biosynthesis as a key driver of MacTel etiology and progression using statistical genetics methods.

The paper identifies GIGYF1 loss of function variants as associated with increased risk of type 2 diabetes and higher glucose/HbA1c levels in a large exome sequencing study.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

This study identifies genetic associations with metabolite levels across multiple cohorts and links these variants to clinical outcomes like type 2 diabetes and macular telangiectasia type 2.

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

This study identifies rare variant associations with fat distribution and cardio-metabolic risk, implicating intracellular lipolysis genes in these traits.