Publications by authors named "Masaki Takazawa"
Article Synopsis
- Retinitis pigmentosa (RP) is a common inherited eye disease that leads to blindness, caused by various gene variants, making genetic diagnosis crucial for treatment and prognosis.
- This study focused on using multiplex ligation-dependent probe amplification (MLPA) to identify copy number variations (CNVs) in the EYS gene connected to RP, particularly since next-generation sequencing (NGS) has limitations in detecting CNVs.
- Results confirmed CNVs in eight patients initially identified through NGS, and found additional CNVs in 2 out of 42 undiagnosed patients, highlighting that NGS can be effective for CNV detection in RP cases despite some limitations.
Article Synopsis
- Next-generation DNA sequencing (NGS) is increasingly used for genetic testing in clinical settings, where accuracy in data is essential.
- This study introduces a machine-learning approach to identify and benchmark challenging-to-sequence areas in the human genome, specifically at the nucleotide level, using data from The Genome Aggregation Database (gnomAD).
- A new metric called the 'UNMET score' was developed to help assess and potentially reduce sequencing errors in protein-coding regions of the genome when using short-read NGS technology.
Introduction: The interaction of immune cells and cancer cells shapes the immunosuppressive tumor microenvironment. For successful cancer immunotherapy, comprehensive knowledge of antitumor immunity as a dynamic spatiotemporal process is required for each individual patient. To this end, we developed an immunogram for the cancer-immunity cycle by using next-generation sequencing.
View Article and Find Full Text PDFThe importance of neoantigens for cancer immunity is now well-acknowledged. However, there are diverse strategies for predicting and prioritizing candidate neoantigens, and thus reported neoantigen loads vary a great deal. To clarify this issue, we compared the numbers of neoantigen candidates predicted by four currently utilized strategies.
View Article and Find Full Text PDFIn most animals, aging is an irreversible process; however the species Turritopsis sp. has been observed to undergo a rejuvenation process as many as 14 times. In the present study, we used multiplexed RNA libraries to obtain the transcriptome from four developmental stages (St) of Turritopsis sp.
View Article and Find Full Text PDF