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2016 Fiscal Year Final Research Report

Analysis of genetic variation in repetitive and non-reference genomic regions

Research Project

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Project/Area Number 26430196
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Medical genome science
Research InstitutionKyoto University (2016)
Institute of Physical and Chemical Research (2014-2015)

Principal Investigator

Fujimoto Akihiro  京都大学, 医学研究科, 特定准教授 (30525853)

Project Period (FY) 2014-04-01 – 2017-03-31
Keywords次世代シークエンサー / ヒトゲノム多様性
Outline of Final Research Achievements

Recent progress of DNA sequencing technology enables us to sequence whole genome. However, read length of the current DNA sequencers are short, and therefore repetitive regions and non-reference genomic regions can not be analyzed. To examine the polymorphism of repetitive regions and non-reference genomic regions, we collected unmapped reads from human whole genome sequence data, and designed capture probes to obtain DNA from these regions. We sequenced the collected DNA with a long read sequencing technology. We identified genetic variation in the repetitive and non-reference genomic regions.

Free Research Field

人類遺伝学

URL: 

Published: 2018-03-22  

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