Information technology for narrowing down potential functional rare variants and estimating disease mechanisms

Wataru Iwasaki, Center for Earth Surface System Dynamics,Atmosphere and Ocean Research Institute,the University of Tokyo


Due to the rapid advancements of DNA sequencing technologies in recent years,the personal genome analysis has become reality. It enabled us to investigate rare variants in addition to common variants,and some successful researches have found rare variants that are strongly assumed to be causes of genetic diseases. Though,we expect that such successful examples may be limited to “simple” diseases that are neither,for example,multifactorial diseases,common diseases,nor diseases without mutations affecting protein coding sequences. In this research,we will develop information technologies to narrow down potential functional rare variants and to estimate the disease mechanisms,by taking advantage of existing biomedical knowledge and databases.