Amanda Thomas‐Wilson

This study evaluates exome sequencing in liver diseases, finding a 5.7% diagnostic rate for monogenic disorders after filtering and manual review.

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.