10 Result(s)
within
Akihiro Fujimoto
Science, Humanities and Social Sciences, multidisciplinary
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Article
Open AccessNarcolepsy type I-associated DNA methylation and gene expression changes in the human leukocyte antigen region
Narcolepsy type 1 (NT1) is caused by a loss of hypothalamic orexin-producing cells, and autoreactive CD4+ and CD8+ T cells have been suggested to play a role in the autoimmune mechanism. Although NT1 showed a str...
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Article
Open AccessImmunogenomic pan-cancer landscape reveals immune escape mechanisms and immunoediting histories
Immune reactions in the tumor microenvironment are an important hallmark of cancer, and emerging immune therapies have been proven effective against several types of cancers. To investigate cancer genome-immun...
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Article
Open AccesseVIDENCE: a practical variant filtering for low-frequency variants detection in cell-free DNA
Plasma cell-free DNA (cfDNA) testing plays an increasingly important role in precision medicine for cancer. However, circulating cell-free tumor DNA (ctDNA) is highly diluted by cfDNA from non-cancer cells, co...
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Article
Open AccessClinical utility of androgen receptor gene aberrations in circulating cell-free DNA as a biomarker for treatment of castration-resistant prostate cancer
The therapeutic landscape of castration-resistant prostate cancer (CRPC) has rapidly expanded. There is a need to develop noninvasive biomarkers to guide treatment. We established a highly sensitive method for...
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Open AccessPublisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
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Open AccessIMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
Insertions and deletions (indels) have been implicated in dozens of human diseases through the radical alteration of gene function by short frameshift indels as well as long indels. However, the accurate detec...
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Open AccessSystematic analysis of mutation distribution in three dimensional protein structures identifies cancer driver genes
Protein tertiary structure determines molecular function, interaction and stability of the protein, therefore distribution of mutation in the tertiary structure can facilitate the identification of new driver ...
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Open AccessA comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
As whole-genome sequencing for cancer genome analysis becomes a clinical tool, a full understanding of the variables affecting sequencing analysis output is required. Here using tumour-normal sample pairs from...
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Article
Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity
Intrahepatic cholangiocarcinoma and combined hepatocellular cholangiocarcinoma show varying degrees of biliary epithelial differentiation, which can be defined as liver cancer displaying biliary phenotype (LCB...
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Article
Open AccessA practical method to detect SNVs and indels from whole genome and exome sequencing data
The recent development of massively parallel sequencing technology has allowed the creation of comprehensive catalogs of genetic variation. However, due to the relatively high sequencing error rate for short r...
