Camille Mumm

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.

This study shows that AAGGG repeat expansions cause synaptic defects in CANVAS neurons independently of RFC1, with phenotypes corrected by repeat deletion.

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

The paper identifies a regulatory variant near human KRT8/18 by analyzing zebrafish periderm enhancers and predicting the effect of OFC-associated SNPs.