William Lee

The paper identifies new tandem repeat expansion associations with neurodegenerative diseases using large-scale genomic data from diverse populations.

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

This study identifies 47 tandem repeat variants associated with 73 traits in 168,554 UK Biobank individuals, highlighting their role in missing heritability.

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.

The paper identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability through a phenome-wide association study using DNA methylation profiling and UK Biobank data.

The paper introduces Power Window, a method to identify clinically impactful regions of genes using population-scale datasets, showing improved accuracy in variant effect prediction.

This study identifies 32 traits associated with copy number variation of 38 VNTRs and multicopy genes in a large cohort, suggesting structural variants contribute to missing heritability.

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.