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Updated: Nov 16, 2025

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
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Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

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ハプロタイプ解析による多様なヒトゲノムと構造変異の統合分析

Peter Ebert1, Peter A Audano2, Qihui Zhu3

  • 1Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany.

Science (New York, N.Y.)
|February 26, 2021
PubMed
まとめ

高品質のヒトゲノムアセンブリは ロングリード配列を用いて作成されました このアプローチにより,多数の新しい構造変異 (SV) が特定され,遺伝的変異の研究のためのリソースが提供されます.

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