Landscape of chromosomes and disease with advanced genomic analysis

2016 Fiscal Year Final Research Report

• Project/Area Number: 25860258
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: St. Marianna University School of Medicine (2014-2016); National Research Institute for Child Health and Development (2013)
• Principal Investigator: MIGITA Ohsuke 聖マリアンナ医科大学, 医学部, 講師 (20425721)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: ゲノム / マイクロアレイ / 次世代シーケンサー / 遺伝医療 / 臨床遺伝

Outline of Final Research Achievements

The human genome is a complex, dynamic information system. The high throughput new technologies are rapidly evolving, and providing the genome-wide comprehensive chromosome structure information. In this study, we analyzed individuals without obvious abnormality in pregnancy and their new born, and revealed in detail the chromosomal structural variants, especially the copy number change (CNV). Therefore, those chromosomal changes could be maintained and preserved beyond generations. Collecting such benign CNV data becomes the basis for identifying important areas causing disease and disorders in the perinatal period. Furthermore, the CNV analysis helps to understand the mechanism of development diseases with chromosomal abnomalities. Analysis data of chromosomal structural abnormality obtained in this study contributed to both clinical application and basic research of genomic medicine.

Free Research Field

遺伝医学