Torrin L. McDonald

The paper develops a targeted long-read method to profile haplotype-specific chromatin accessibility and DNA methylation at L1HS loci in human cells, revealing allele-specific patterns and non-Mendelian inheritance.

This study assesses somatic mosaicism in human frontal cortex using multi-platform sequencing, showing improved variant detection with haplotype-resolved assemblies and single-neuron sequencing.

The paper develops a framework to detect and trace somatic retrotransposition events in human tissues, identifying rare L1 insertions and improving detection accuracy.

OnRamp provides a cost-effective method for plasmid validation using nanopore sequencing, enabling full plasmid sequencing and detection of sequence variation in complex regions.

The paper demonstrates that the lac operator-repressor system functions in zebrafish cells to modulate gene expression.

The paper uses Cas9 targeted nanopore sequencing to enrich and detect mobile elements in human genomes, identifying non-reference MEIs missed by existing methods.

SquiggleNet classifies nanopore signals in real time with high accuracy, outperforming traditional methods in speed and memory usage.