The 48th Annual Meeting of the Molecular Biology Society of Japan

Chairperson：Naoki Yoshida (New England Biolabs Japan Inc.)

Approaches for the Identification of Disease-Associated Genes Using Next-Generation Sequencing

Next-generation sequencing (NGS) is an innovative analytical technology offering high throughput and speed, as well as reduced costs, compared to conventional Sanger sequencing. The techniques applied to whole-genome sequencing, exome sequencing, RNA-seq, ChIP-seq, ATAC-seq, bisulfite sequencing, metagenomic analysis and targeted sequencing of specific gene panels.


However, NGS also has several challenges. The analysis generates vast amounts of data and requires substantial computing power, which often leads to high analysis costs. The data quality and accuracy, such as GC bias, high indel rates, sample contamination and PCR bias, can result in false positives and negatives. Furthermore, the incompleteness of reference genomes and databases, and the detection of structural variants, copy number variations (CNVs) and epigenetic modifications remain ongoing challenges.


In this seminar, we will focus on whole-genome and RNA-seq analysis, explain strategies for improving data accuracy through sample preparation and selection of analysis protocols. We will also present the results of validating NGS data combined with spatial transcriptomics and genome editing technologies with case studies of various diseases.