Fuki Marie Hisama

Pooling Fiber-seq gDNA with concatenated MAS-Seq cDNA in one PacBio run gives phased genome, methylome, chromatin, and transcriptome, exposing four gene disruptions from one X;13 translocation.

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.

This study identifies a deletion of FUNDC2 and CMC4 on Xq28 as sufficient to cause hypergonadotropic hypogonadism in men by disrupting apoptosis, inflammation, and FSH regulation.