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CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data
GigaScience ( IF 11.8 ) Pub Date : 2020-11-02 , DOI: 10.1093/gigascience/giaa118 Sarah Sandmann 1 , Marius Wöste 1 , Aniek O de Graaf 2 , Birgit Burkhardt 3 , Joop H Jansen 2 , Martin Dugas 1
GigaScience ( IF 11.8 ) Pub Date : 2020-11-02 , DOI: 10.1093/gigascience/giaa118 Sarah Sandmann 1 , Marius Wöste 1 , Aniek O de Graaf 2 , Birgit Burkhardt 3 , Joop H Jansen 2 , Martin Dugas 1
Affiliation
Copy number variants (CNVs) are known to play an important role in the development and progression of several diseases. However, detection of CNVs with whole-exome sequencing (WES) experiments is challenging. Usually, additional experiments have to be performed.
中文翻译：
CopyDetective：全外显子组测序数据中检测阈值感知的拷贝数变异调用
已知拷贝数变异 (CNV) 在多种疾病的发生和进展中发挥着重要作用。然而，通过全外显子组测序 (WES) 实验检测 CNV 具有挑战性。通常，必须进行额外的实验。
更新日期：2020-11-02
中文翻译：
CopyDetective：全外显子组测序数据中检测阈值感知的拷贝数变异调用
已知拷贝数变异 (CNV) 在多种疾病的发生和进展中发挥着重要作用。然而，通过全外显子组测序 (WES) 实验检测 CNV 具有挑战性。通常，必须进行额外的实验。
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