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Adaptive Nanopore Sequencing to Determine Pathogenicity of BRCA1 Exonic Duplication

Mathilde Filser,Mathias Schwartz,Kevin Merchadou,Abderaouf Hamza,Marie-Charlotte Villy, Antoine Decees,Eleonore Frouin,Elodie Girard,Sandrine Caputo,Victor Renault,Veronique Becette,Golmard Lisa,Nicolas Servant,Dominique Stoppa-Lyonnet,Olivier Delattre,Chrystelle Colas,Julien Masliah-Planchon

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Key words
Cancer Genomics,sequence variation,Structural Variation
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