次世代シーケンサーを用いた統合失調症多発家系の遺伝子解析と病因・病態解明

2017 年度 実績報告書

• 研究課題/領域番号: 15K09804
• 研究機関: 名古屋大学
• 研究代表者: Aleksic Branko 名古屋大学, 医学系研究科(国際), 特任准教授 (60547511)
• 研究期間 (年度): 2015-04-01 – 2018-03-31
• キーワード: Exome sequecing

研究実績の概要

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

研究成果

• [雑誌論文] Rare loss of function mutations in N-methyl-d-aspartate glutamate receptors and their contributions to schizophrenia susceptibility (2018)
  • 著者名/発表者名: 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
  • 雑誌名: Transl Psychiatry 巻: 8 ページ: s41398-017-0061
  • DOI: 10.1038/s41398-017-0061-y
  • 査読あり / オープンアクセス