Hiroaki Mitsuhashi

The paper uses nanopore direct RNA sequencing to analyze DUX4-induced gene expression and repetitive elements in human muscle cells, identifying new fusion transcripts and splicing events.

The paper analyzes 176,401 ERV-ORFs across 19 mammalian genomes to determine their transcriptional potential and evolutionary dynamics.

This paper develops a method to detect tandem repeat expansions from long DNA reads, identifying pathological expansions by comparing to healthy controls.

The paper uses nanopore sequencing to accurately sequence the D4Z4 repeat array associated with FSHD, demonstrating high accuracy and potential for molecular diagnosis.