Satomi Mitsuhashi

The paper introduces software tools to analyze nanopore DNA reads for complex rearrangements, focusing on distinguishing patient-specific changes from common ones.

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 surveys tandem repeats in 16 humans using nanopore sequencing and finds disease-associated repeats are more polymorphic in the general population.

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

This paper introduces a method to fully characterize complex germline rearrangements using long DNA reads, demonstrating its ability to reconstruct intricate chromosomal translocations.

The paper identifies a GGC repeat expansion in the NOTCH2NLC gene using long-read sequencing, linking it to neuronal intranuclear inclusion disease in both familial and sporadic cases.

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.

The paper develops a portable system using nanopore sequencer and laptop computers for rapid on-site bacterial composition analysis, showing comparable or better results than conventional methods.