Jason Mighty

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

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

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank

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.

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

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.

Human retinal organoids release extracellular vesicles that regulate gene expression in target human retinal progenitors

This study identifies EVs from human retinal organoids and shows they regulate gene expression in retinal progenitors through miRNA cargo.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

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

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

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