NGS of multiple onset schizophrenia families

2019 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: Whole exome sequencing

Outline of Annual Research Achievements

We have finished exome sequencing on all families planned to be included in this study. We have established bioinformatic pipeline for NGS data analysis both in terms or required hardware and software. W have two high performance LINUX based workstation that we are using for data analysis. We have set up industry standard software for data analysis including BWA, PICARD, GATK and ANNOVAR. We applied quality controls filters and insilico prediction analysis. Using that pipeline we have identified reasonable number of candidate variants. Furthermore we have analysed different transmission patterns of the variants focusing on de-novo or co-segregatered variants.

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

Validation of the detected variants using standard capillary sequencer.