NGS of multiple onset schizophrenia families

2018 Fiscal Year Research-status Report

• Project/Area Number: 18K07554
• 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): 2018-04-01 – 2021-03-31
• Keywords: Genome / Sequencing / Psychiatry

Outline of Annual Research Achievements

We have selected samples for sequencing, set up instrumentation and obtained necessary reagents.Samples are selected from our department. We targeted patients where we have access so we can obtain additional clinical information if needed.
We have also did some trail runs and have obtained good and reproducible results. We have established reasonable bioinformatic pipeline for next generation sequencing data analysis both in terms or required hardware and software. We have two high performance LINUX based workstation computers that we are using for data analysis. We have set up industry standard software for data analysis including well known and widely used field standard BWA, PICARD, GATK and ANNOVAR. These software is free of charge and required some programming knowledge to set up.
We applied required quality controls filters and in-silico prediction analysis. The initial analyses yielded good preliminary results. We were able to obtain reasonably good speed and quality. We hope to start analysis of our samples soon. DNA was extracted form peripheral blood and we have achieved good quality measured by nanodrop so we do not expect any problem when we start actual next generation sequencing.

Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

Project is on schedule, we had not encountered major problems.

Strategy for Future Research Activity

Preform sequencing on the collected samples.

Causes of Carryover

We allocated extra budget from this fiscal year to next fiscal year in case we encounter some reagent loss in the initial stages of the wet lab work. we are planning to use that buget for buying additional reagents.

Research Products

• [Journal Article] Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia. (2018)
  • Author(s): Ishizuka K, Kimura H, Kushima I, Inada T, Okahisa Y, Ikeda M, Iwata N, Mori D, Aleksic B, Ozaki N.
  • Journal Title: Psychiatr Genet. Volume: 5 Pages: 90-93
  • DOI: 10.1097/YPG.0000000000000204
  • Peer Reviewed
• [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: Translational Psychiatry Volume: 8(1) Pages: 12
  • DOI: 10.1038/s41398-017-0061-y
  • Peer Reviewed / Open Access