Exploring informatics for brain diseases based on personal genomics

Shinichi Morishita            Department of Computational Biology,Graduate School of Frontier Sciences,University of Tokyo
Masahiro Kasahara          Department of Computational Biology,Graduate School of Frontier Sciences,University of Tokyo

Disease-associated genetic variations in the human genome are divergent,including single nucleotide polymorphism (SNP) and short insertions/deletions as well as large-scale variations such as large deletions,long transposons,intra-chromosomal inversions,and chromosomal rearrangements. Comprehensive understanding of these variations was an extremely difficult task to achieve because an enormous volume of information had to be collected and classified. Fortunately,the recent advent of next-generation sequencing technology has been making it possible to collect nucleotide-level information of individuals precisely,providing an ultimate means for studying disease-associated loci. In particular,we are now in a position to argue the common disease multiple rare variants hypothesis in many diseases. In addition,the availability of massively parallel computers also allows us to process huge data in a reasonable amount of time. Our research team focuses on diseases of brain,and our objective is to develop a new research field of informatics aiming at analyzing personal genomes of pedigree or sporadic samples,uncovering disease-associated loci efficiently,characterizing the sequence motifs of their genetic variations properly,and estimating the process behind these genetic variations.