Nicholas H. Smith

The paper presents an optimized variant calling pipeline that reduces storage and runtime costs for DNA sequencing analysis.

This paper introduces Spectralis, a deep learning method for de novo peptide sequencing that improves sensitivity and precision in tandem mass spectrometry.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

The paper models cell cycle dynamics using Hopfield systems with gene expression data from HeLa and yeast cells, identifying gene inhibition targets to disrupt the cycle.