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お問い合わせ

隠れた遺伝性の課題

低コストシークエンサーの到来で健康と疾患におけるヒト遺伝多型の理解が深まりました。しかしショートリード技術の制約により、ほとんどの報告は1塩基多型(SNV)や短いindelのみにとどまり、大きな構造多型や複雑なゲノム因子は含まれていません1。SNV以外のDNA変異は、ヒトゲノムの多型において74%の塩基に影響をもたらし2、疾患表現型や遺伝子型の関連解明に重要である可能性を秘めています。

ヒトゲノム多様性の最も包括的な像を捉える

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。PacBioの1分子単位で得られるロングリード情報により隠れた構造多型を解明し、ハプロタイプブロックにわたる多型フェージングを直接行えます。PacBioシステムにより、研究者は疾患遺伝性の基礎に新たな洞察をもたらすことができます。

SMRTシークエンスがもたらすヒト医学研究へのインパクト

PacBioのロングリードがもたらすヒト医学研究のソリューション

SMRTシークエンスがどのようにヒト健康と疾患に遺伝的基礎の解明をもたらすか、ぜひお問い合わせください。

 

References

  1. Pang, A., et al., (2014) Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum. G3. 4(1), 63-65.
  1. Levy, S., et al., (2007). The diploid genome sequence of an individual human. PLOS Biology. 5(10), e254.

Selected Resources