Jason Ernst

Whole-genome 5-hydroxymethylation profiling of human neurons for regulatory and biological insight

Abstract While 5-methylcytosine (5mC) DNA methylation is a well-known player in genome stability and transcriptional regulation, the role of 5-hydroxymethylcytosine (5hmC), particularly prevalent in neurons, remains largely unknown. Here, we used long-read Oxford Nanopore Technol...

MissenseHMM: state-based annotations for missense variants through joint modeling of pathogenicity scores

Many computational predictors of missense variant pathogenicity are available. To capture information across various predictors, we propose MissenseHMM, which learns states corresponding to combinatorial patterns of variant prioritizations. We applied MissenseHMM to 43 predictors...