Jessica A. Switzenberg

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.

The paper identifies cryptic intronic C9orf72 transcripts as endogenous templates for RAN translation, leading to DPR production in ALS/FTD.

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.

The paper develops SEMpl, a pipeline that predicts SNP effects on transcription factor binding affinity using ChIP-seq data to identify disease-causing regulatory loci.