Andrea Ganna

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 estimates the impact of genetic risk factors on disease burden using disability-adjusted life years (DALYs) and finds that both common and rare variants significantly contribute to healthy life years lost.

This study updates the genetic architecture of COVID-19 by adding 11 new genome-wide significant loci through a large GWAS meta-analysis.

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 investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

The paper identifies genetic loci associated with survey nonresponse behaviors and shows their genetic correlation with education and health.

The paper identifies an alternative splicing variant of OAS1 that provides protection against severe COVID-19 in people of African ancestry, independent of Neanderthal haplotypes.

The paper introduces SCORE, a scalable and accurate method for estimating genetic correlation in large datasets, achieving higher precision than existing methods.

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

This study examines how a major genetic risk factor for COVID-19 affects mortality and severity, finding stronger effects in younger adults.

The paper uses symptom-based case predictions to conduct a GWAS on COVID-19, finding new genetic susceptibility insights and suggesting different genetic architectures for severity and susceptibility.

The paper identifies a genetic variant in SPDL1 that links pulmonary fibrosis risk and cancer protection through antagonistic pleiotropy.

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

This study creates a single-cell and spatial atlas of autopsy tissues from COVID-19 patients, revealing altered cellular responses and potential therapeutic targets.

This study combines multiple GWAS of ageing traits to identify genetic components associated with human ageing and finds LPA and VCAM1 as potential drug targets.

The paper investigates the heritability of age of first occurrence for complex disorders using GWAS data from UK Biobank and FinnGen, finding genetic contributions and correlations with disease susceptibility.

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

From 125,748 exomes and 15,708 genomes, 443,769 high-confidence predicted loss-of-function variants yield LOEUF, a continuous gene intolerance score tracking mouse lethality, cell essentiality, and disease associations.

The paper develops and evaluates prediction models for cardiovascular diseases and type 2 diabetes using EHR data, showing high discrimination performance for most conditions.

The paper develops and validates a next-gen risk engine for predicting multiple cardiovascular diseases using UK Biobank data, achieving moderate-to-high discrimination and good calibration.

The paper partitions low-frequency and common variant heritability across functional annotations, finding non-synonymous coding variants and conserved regions explain significant portions of low-frequency heritability.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

The paper identifies rare variants contributing to extreme gene expression changes across tissues and introduces RIVER, a Bayesian method to prioritize functional variants.

This study examines the role of microdeletions in different epilepsy subtypes, finding enriched contributions in Genetic Generalized Epilepsy but not in Rolandic or Adult Focal Epilepsy.

This study finds that ultra-rare disruptive variants in highly constrained genes are associated with reduced educational attainment in the general population.

The paper develops a workflow for large-scale non-targeted metabolomic profiling in human studies, detecting over 8,000 metabolic features and identifying 90 metabolites associated with hsCRP.