James T. Lu

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.

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.

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.

The paper analyzes rare variants in 54,000 exomes across 3,166 phenotypes, identifying 78 gene-based associations with significant effects on human traits.

The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.