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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.

IF 4 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY
Annals of Laboratory Medicine Pub Date : 2024-11-01 Epub Date: 2024-05-31 DOI:10.3343/alm.2024.0051
Paola Concolino, Elisa De Paolis, Martina Rinelli, Giulia Maneri, Francesca Brisighelli, Rita Trozzi, Simona Duranti, Luciano Giacò, Maria Piane, Alessia Preziosi, Arianna Panfili, Giovanni Scambia, Camilla Nero, Maria De Bonis, Angelo Minucci
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利用正在开发的基于商用下一代测序的同源重组缺陷测定的拷贝数变异算法识别 BRCA1 的多重连接依赖性探针扩增假阳性结果。
本文章由计算机程序翻译，如有差异，请以英文原文为准。
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来源期刊
Annals of Laboratory Medicine
Annals of Laboratory Medicine MEDICAL LABORATORY TECHNOLOGY-
CiteScore
8.30
自引率
12.20%
发文量
100
审稿时长
6-12 weeks
期刊介绍： Annals of Laboratory Medicine is the official journal of Korean Society for Laboratory Medicine. The journal title has been recently changed from the Korean Journal of Laboratory Medicine (ISSN, 1598-6535) from the January issue of 2012. The JCR 2017 Impact factor of Ann Lab Med was 1.916.
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