Masahiro Sugawa

PRCGAP provides a haplotype-resolved analysis of cancer genomes, detecting variants missed by standard references and revealing new insights into structural variants and fusion events in leukemia.

The paper introduces mm2-ivh, an algorithm that improves overlap detection in alpha satellite HORs by distinguishing identical k-mers from different repeats, leading to more accurate haplotype reconstruction.

This paper uses rare k-mers to identify centromere haplogroups in human populations and cancer translocations, revealing structural diversity and translocation mechanisms.

This study develops a computational workflow for target adaptive sampling long-read sequencing and applies it to hereditary cancer genomes to identify genetic variants and epigenetic changes.