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Significant allelic dropout phenomenon of Oncomine BRCA Research Assay on Ion Torrent S5.

作者信息

Jeong Tae-Dong, Cho Sung-Yup, Kim Mi-Wha, Huh Jungwon

机构信息

Department of Laboratory Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea.

Ewha Institute of Convergence Medicine, Ewha Womans University Mokdong Hospital, Seoul, Republic of Korea.

出版信息

Clin Chem Lab Med. 2019 May 27;57(6):e124-e127. doi: 10.1515/cclm-2018-0674.

DOI:10.1515/cclm-2018-0674
PMID:30367782
Abstract
摘要

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Allelic dropout in the endoglin () gene caused by common duplication beyond the primer binding site.由引物结合位点以外的常见重复导致的内皮糖蛋白（）基因中的等位基因缺失。
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Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.等位基因脱扣是一种常见现象，它会降低基于聚合酶链式反应的靶向基因panel测序的诊断效率。
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