Ricardo H. Ulloa

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

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 evaluates polygenic risk scores (PRS) for cancer prediction in a racially diverse biobank, finding moderate improvements in discriminatory accuracy for European ancestry but limited gains for African ancestry.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

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

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.

The paper analyzes cryptic relatedness in a large exome cohort, identifies numerous close relationships, reconstructs pedigrees, and demonstrates their utility in improving mutation phasing and identifying de novo mutations.