Emily C. Oates

This study uses deep learning to compare human and mouse gene expression across 777K bulk RNA-seq samples, identifying genes with differing functional associations between species.

The paper develops GeneRAIN models trained on bulk RNA-seq data to predict gene attributes, showing they capture biological information beyond gene expression and outperform existing models.

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.