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

作者: Yuki HITOMI , Katsushi TOKUNAGA

DOI: 10.2183/PJAB.93.042

关键词:

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

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