Exome sequencing of schizophrenia using families with multiple affected members

2017 Fiscal Year Annual Research Report

• Project/Area Number: 15K09804
• Research Institution: Nagoya University
• Principal Investigator: Aleksic Branko 名古屋大学, 医学系研究科(国際), 特任准教授 (60547511)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: Exome sequecing

Outline of Annual Research Achievements

I previous year we have preformed filtering and data annotation. We used several bioinformatic tools to establish pipeline for gene set analysis. We have annotated variants to genes and used genes to analyze affected gene sets. Validation of variants showed us relatively high true positive rate. Our data analysis pipeline performed satisfactory and we did not experienced major problems. We have used pipeline to analyze data and the analysis was satisfactory. We established that exome sequecing is valuable tool to analyze genetic predisposition to psychiatric disorders, and can be use to understand the underlying molecular mechanism of disease

Research Products

• [Journal Article] Rare loss of function mutations in N-methyl-d-aspartate glutamate receptors and their contributions to schizophrenia susceptibility (2018)
  • Author(s): Yu Y, Lin Y, Takasaki Y, Wang C, Kimura H, Xing J, Ishizuka K, Toyama M, Kushima I, Mori D, Arioka Y, Uno Y, Shiino T, Nakamura Y, Okada T, Morikawa M, Ikeda M, Iwata N, Okahisa Y, Takaki M, Sakamoto S, Someya T, Egawa J, Usami M, Kodaira M, Yoshimi A, Oya-Ito T, Aleksic B, Ohno K, Ozaki N
  • Journal Title: Transl Psychiatry Volume: 8 Pages: s41398-017-0061
  • DOI: 10.1038/s41398-017-0061-y
  • Peer Reviewed / Open Access