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Updated: Sep 28, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

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完全なヒトゲノムにおけるセグメンタル複製とその変異

Mitchell R Vollger1, Xavi Guitart1, Philip C Dishuck1

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Science (New York, N.Y.)
|March 31, 2022
PubMed
まとめ

人間の進化と病気にとって重要なセグメンタル複製 (SD) は,T2T-CHM13ゲノムを使用して完全に配列化されています. これはSDがゲノムの7%を占めていることを明らかにし,コピー数変異と霊長類のゲノム進化の理解に大きな影響を与えています.

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