一种用于乳腺癌和卵巢癌分子诊断中即时检测拷贝数变异（CNV）的综合BRCA1/2二代测序流程。 - Suppr

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.

作者信息

Concolino Paola, Rizza Roberta, Mignone Flavio, Costella Alessandra, Guarino Donatella, Carboni Ilaria, Capoluongo Ettore, Santonocito Concetta, Urbani Andrea, Minucci Angelo

机构信息

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.

出版信息

Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.

DOI:10.1016/j.cca.2018.02.012

PMID:29458049

Abstract

摘要

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A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.一种用于乳腺癌和卵巢癌分子诊断中即时检测拷贝数变异（CNV）的综合BRCA1/2二代测序流程。

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A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.

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