Akihiro Fujimoto

Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression

This study uses long-read sequencing to identify isoform-specific eQTLs in B cells, revealing new regulatory mechanisms and functional variants not detected by gene-level analysis.

Identification of Region-Specific Gene Isoforms in the Human Brain Using Long-Read Transcriptome Sequencing and Their Correlation with DNA Methylation

The paper identifies region-specific gene isoforms in the human brain using long-read transcriptome sequencing and links them to DNA methylation patterns.

Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes

The paper introduces LoMA, a localized assembly method for long reads, enabling high-resolution analysis of repetitive regions in human genomes and identifies various insertion types.

Comprehensive analysis of microsatellite polymorphisms in human populations

This study analyzes 8.5 million microsatellite regions across three human genome datasets, identifies polymorphic sites, and demonstrates their utility in population genetics and individual identification.

Immuno-genomic Pan-cancer Landscape Reveals Diverse Immune Escape Mechanisms and Immuno-Editing Histories

The paper analyzes immuno-genomic data across 31 cancer types to identify immune escape mechanisms and immuno-editing histories.

Mutational signatures associated with tobacco smoking in human cancer

The paper identifies multiple mutational signatures linked to tobacco smoking in cancer, reflecting both direct and indirect effects of tobacco smoke on DNA damage and mutation processes.

A Comprehensive Assessment of Somatic Mutation Calling in Cancer Genomes

This study benchmarks somatic mutation calling in cancer genomes, identifying inconsistencies and proposing solutions to improve accuracy.

A comprehensive multicenter comparison of whole genome sequencing pipelines using a uniform tumor-normal sample pair

This study compares whole genome sequencing pipelines across five centers using a uniform tumor-normal sample pair, identifying factors affecting output consistency.