Exome sequencing of schizophrenia using families with multiple affected members

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09804
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• 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 Final Research Achievements

In this research we dissected genetic architecture of schizophrenia using families with multiple affected members. Until now most family based exome sequencing used trio based design and research was focused mainly on de novo variants (i.e. variants that are not present in parents but exist in affected children). In the current research besides de novo variants we focused on inherited variants. These are variants that are present in all affected member in one pedigree. In addition we investigated variants that are rare and of high impact (i.e. splice site mutation and/or nonsense variants), which may be family specific but exhibit incomplete penetrance (i.e. present in both affected and non affected members of the same family.

Free Research Field

Biological psychiatry