Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat

Minako Yoshihara, Daisuke Saito, Tetsuya Sato, Osamu Ohara, Takashi Kuramoto, Mikita Suyama

研究成果: Contribution to journalArticle査読

8 被引用数 (Scopus)

抄録

Background: Target capture sequencing is an efficient approach to directly identify the causative mutations of genetic disorders. To apply this strategy to laboratory rats exhibiting various phenotypes, we developed a novel target capture probe set, TargetEC (target capture for exons and conserved non-coding sequences), which can identify mutations not only in exonic regions but also in conserved non-coding sequences and thus can detect regulatory mutations. Results: TargetEC covers 1,078,129 regions spanning 146.8 Mb of the genome. We applied TargetEC to four inbred rat strains (WTC/Kyo, WTC-swh/Kyo, PVG/Seac, and KFRS4/Kyo) maintained by the National BioResource Project for the Rat in Japan, and successfully identified mutations associated with these phenotypes, including one mutation detected in a conserved non-coding sequence. Conclusions: The method developed in this study can be used to efficiently identify regulatory mutations, which cannot be detected using conventional exome sequencing, and will help to deepen our understanding of the relationships between regulatory mutations and associated phenotypes.

本文言語英語
論文番号593
ジャーナルBMC genomics
17
1
DOI
出版ステータス出版済み - 8 9 2016

All Science Journal Classification (ASJC) codes

  • バイオテクノロジー
  • 遺伝学

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