Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases

Proceedings of the Japan Academy, Series B. Physical and Biological Sciences

Yuki HITOMI¹ 

[1] Department of Human Genetics, Graduate School of Medicine, the University of Tokyo

关键词: next-generation sequencing (NGS) technology;    whole-genome sequencing (WGS);    whole-exome sequencing (WES);    genome-wide association study (GWAS);    functional disease-causal/susceptible variants;   

DOI  :  10.2183/pjab.93.042

学科分类：物理（综合）

来源: Japan Academy

【 摘 要 】

Human genome variation may cause differences in traits and disease risks. Disease-causal/susceptible genes and variants for both common and rare diseases can be detected by comprehensive whole-genome analyses, such as whole-genome sequencing (WGS), using next-generation sequencing (NGS) technology and genome-wide association studies (GWAS). Here, in addition to the application of an NGS as a whole-genome analysis method, we summarize approaches for the identification of functional disease-causal/susceptible variants from abundant genetic variants in the human genome and methods for evaluating their functional effects in human diseases, using an NGS and in silico and in vitro functional analyses. We also discuss the clinical applications of the functional disease causal/susceptible variants to personalized medicine.

【 授权许可】

Unknown