Identification of causative genes and development of a new analytical method for familial neurological diseases

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670420
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Neurology
• Research Institution: Kobe University
• Principal Investigator: SATAKE WATARU 神戸大学, 医学(系)研究科(研究院), 助教 (50467594)
• Co-Investigator(Renkei-kenkyūsha): TODA Tatsushi 神戸大学, 大学院医学研究科, 教授 (30262025)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 神経遺伝 / エクソーム

Outline of Final Research Achievements

We performed exome sequencing for families with two genetic diseases; one is caused by a known gene-mutation and the other is caused by unknown gene. We used Hiseq2500 for high throughput sequencing, mapped sequence data to human reference genome sequence by BWA software, and called SNVs (Single nucleotide variation) by GATK software. The average depth of exome sequence data was x108-121. We searched for unknown causative genes for genetic diseases by using information of genomic position at the known gene-mutations. We extracted 2-3 candidate mutations for unknown genetic diseases.

Free Research Field

神経内科学