Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases.
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ABSTRACT:
SUBMITTER: Hitomi Y
PROVIDER: S-EPMC5743846 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Publications
Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases.
Hitomi Yuki Y Tokunaga Katsushi K
Proceedings of the Japan Academy. Series B, Physical and biological sciences 20170101 9
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 ...[more]
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