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Updated: Jan 29, 2026

Isolation of Specific Genomic Regions and Identification of Associated Molecules by enChIP
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提高CNV检测性能,除了特定于软件的问题区域.

Jinha Hwang1, Jung Hye Byeon2, Baik-Lin Eun2

  • 1Department of Laboratory Medicine, College of Medicine, Korea University, Seoul 02841, Republic of Korea.

Genes
|January 28, 2026
PubMed
概括

整体外基因组测序 (WES) 可以检测疾病变异,但复制数变异 (CNV) 检测具有挑战性. 过有问题的基因组区域显著提高了基于WES的CNV呼叫者的准确性,并减少了假阳性.

关键词:
一个染色体微阵列.副本号码的变化 副本号的变化整体外基因组测序的测序

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