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ヒトゲノムの遺伝的多様性を包括的に解析

近年、1塩基置換だけではヒトの遺伝的多様性を説明するには足りず、構造多型が健康と疾患の感受性に寄与する重要な因子であるという認識が深まりつつあります1。実際、ヒトゲノムに存在する多型塩基の多くが構造多型により生じます2。完全なde novoアセンブリにより、両親と子の家系トリオ解析や大規模なコホート研究で原因となるアリルの同定を目的とするすべての種類の多型解析が可能となりました。ヒト遺伝的多様性の理解が深まるにつれ、たった1つのリファレンス配列を使用することが必ずしも汎用的ではないことが明らかになりました3。いずれ、各個人のゲノムがそれぞれのリファレンス配列となる日もやってくることでしょう。

比類ないde novoアセンブリを構築

PacBioの1分子リアルタイム(SMRT)シークエンサー は最も高精度なコンセンサス配列と均一なゲノムカバレッジをもたらすロングリードにより、すべての種類のゲノム多型を包括的かつ高精度に検出します。1塩基置換から複雑な構造多型まで、PacBioシステム は複数遺伝子領域にわたる多型およびフェージング情報をもたらします。

  • 人種集団、疾患、あるいは個人に特有の標準リファレンス配列を構築
  • 対応するリファレンス配列と研究対象の遺伝的背景を比較することで検出力を向上
  • 特徴づけが難しいゲノム領域における新規の遺伝多型の検出
  • バイアスなしにすべての種類の多型を包括的に評価

ライブラリー調製

 

 

PacBioシステムでのSMRTシークエンス

  • Sequel SMRT Cell 1Mあたり最大10 Gbを達成
  • プロジェクトのニーズにあわせてスループットを拡張
    • 高品質なde novoアセンブリには40-50xカバレッジ
    • フェーズ化された二倍体アセンブリには50x以上のカバレッジ
 

SMRT AnalysisPacBio DevNetでデータ解析

 

大きなゲノムアセンブリにつての詳細はこちらから

 

ヒト医学研究におけるPacBioの全ゲノムシークエンスソリューションについての詳細は ぜひお問い合わせください。

 

“PacBioテクノロジーは確立されており、ヒトゲノムへの応用が可能になっただけでなく
利点となりました。それは、複雑な領域を簡単に解明することができ、
1塩基多型以外の遺伝多型を見つけることができる唯一の技術だからです。”
—Jeong-Sun Seo マクロジェン4

 

 References

  1. Baker, M., (2012) Structural variation: the genome’s hidden architecture. Nature Methods. 9, 133–137.
  2. Levy, S., et al., (2007) The Diploid Genome Sequence of an Individual Human. PLOS Biology. 5(10), e254.
  3. Church, DM., et al., (2011) Modernizing Reference Genome Assemblies. PLOS Biology. 9(7), e1001091.
  4. Seo, JS., (2015, February) High-quality Asian genome supports population-specific variant analysis. Presented at PacBio workshop at Advances in Genome Biology and Technology (AGBT).

Selected Resources