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Updated: Jan 14, 2026

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SDrecall:一种敏感的方法,用于在细分重复中检测变异.

Xing Tian Yang1, Chun Hing She1, CaiCai Zhang1

  • 1Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.

Genome biology
|January 12, 2026
PubMed
概括

SDrecall通过使用同源序列网络在分段重复中增强了变异检测. 这种方法提高了短读测序的准确性,有助于基因突变的分子诊断.

关键词:
分子诊断是一种分子诊断.分段重复复制的部分重复.变体呼叫者的变体

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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