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Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2024-05-31 , DOI: 10.3343/alm.2024.0051
Paola Concolino 1, 2 , Elisa De Paolis 1, 2 , Martina Rinelli 1, 2 , Giulia Maneri 1, 2 , Francesca Brisighelli 1, 2 , Rita Trozzi 3 , Simona Duranti 4 , Luciano Giacò 5 , Maria Piane 6, 7 , Alessia Preziosi 5 , Arianna Panfili 4 , Giovanni Scambia 3, 8 , Camilla Nero 3 , Maria De Bonis 1, 2 , Angelo Minucci 1, 2
Affiliation  



中文翻译:


使用正在开发的拷贝数变异算法鉴定 BRCA1 中的假阳性多重连接依赖性探针扩增结果,用于基于商业下一代测序的同源重组缺陷检测。


更新日期:2024-05-31
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