人类基因组完整组装中的倒位多态性。
Inversion polymorphism in a complete human genome assembly.
机构信息
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.
出版信息
Genome Biol. 2023 Apr 30;24(1):100. doi: 10.1186/s13059-023-02919-8.
The telomere-to-telomere (T2T) complete human reference has significantly improved our ability to characterize genome structural variation. To understand its impact on inversion polymorphisms, we remapped data from 41 genomes against the T2T reference genome and compared it to the GRCh38 reference. We find a ~ 21% increase in sensitivity improving mapping of 63 inversions on the T2T reference. We identify 26 misorientations within GRCh38 and show that the T2T reference is three times more likely to represent the correct orientation of the major human allele. Analysis of 10 additional samples reveals novel rare inversions at chromosomes 15q25.2, 16p11.2, 16q22.1-23.1, and 22q11.21.
端粒到端粒 (T2T) 完整人类参考基因组显著提高了我们描述基因组结构变异的能力。为了了解其对倒位多态性的影响，我们将来自 41 个基因组的数据重新映射到 T2T 参考基因组，并将其与 GRCh38 参考基因组进行比较。我们发现，通过 T2T 参考基因组，映射的敏感性提高了约 21%，从而能够检测到 63 个倒位。我们在 GRCh38 中发现了 26 个定向错误，并表明 T2T 参考基因组更有可能代表主要人类等位基因的正确定向。对另外 10 个样本的分析揭示了 15q25.2、16p11.2、16q22.1-23.1 和 22q11.21 染色体上新的罕见倒位。
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