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Updated: Sep 28, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
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在完整的人类基因组中的细分重复及其变异

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
概括

对人类进化和疾病至关重要的分段重复 (SD) 现在使用T2T-CHM13基因组进行了完全测序. 这表明SDs占基因组的7%,显著影响了我们对副本数量变异和灵长类基因组演变的理解.

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