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Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study

2025-07-24

Abstract excerpt

<h4>Background: </h4> Copy number variations (CNVs), also referred to as large genomic rearrangements (LGRs), represent a crucial component of BRCA1/2 (BRCA) testing. Next-generation sequencing (NGS) has become an established approach for detecting LGRs by combining sequencing data with dedicated bioinformatics pipelines. However, CNV detection in formalin-fixed paraffin-embedded (FFPE) samples remains technically...

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Literature Corpus work
5f205d5b-31c2-582d-a0dd-36a854b2933e
DOI
10.20944/preprints202507.2066.v1
Open publication

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Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS StudyDOI 10.20944/preprints202507.2066.v1
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