Esteban A. Lopera-Maya

The paper identifies a founder variant in ADAP1 associated with increased risk of schizophrenia and bipolar disorder in a Colombian genetic isolate.

The paper shows that European GWAS findings for serious mental illness and cognition are portable to an admixed Latin American population, associating genetic risk scores with multiple symptoms and cognitive traits.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

This study develops multi-ancestry polygenic risk scores for venous thromboembolism using diverse GWAS data and shows improved predictive performance across European- and African-ancestry populations.

This study identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

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.

The paper identifies host genetic loci associated with gut microbiome composition and function in a large cohort, finding significant associations near LCT and ABO genes.

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.

This study investigates genetic variants in ACE2 and TMPRSS2 genes for associations with quantitative phenotypes and medication use in a population cohort, finding suggestive links with hypertension and inflammation-related drugs.