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Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.

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Title: Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.
Authors: Filser M; Genetics Department, Institut Curie, Paris, France mathilde.filser@curie.fr.; PSL Research University, Paris, France., Schwartz M; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France., Merchadou K; PSL Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France., Hamza A; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France., Villy MC; Oncogenetic Clinic Unit, Institut Curie, Paris, France.; SIREDO Oncology Centre, Institut Curie, Paris, France., Decees A; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France., Frouin E; PSL Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France., Girard E; PSL Research University, Paris, France.; INSERM U900, Institut Curie, Paris, France., Caputo SM; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France., Renault V; PSL Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France., Becette V; PSL Research University, Paris, France.; Anatomo- and Cyto-pathology, Institut Curie, Saint-Cloud, France., Golmard L; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France., Servant N; PSL Research University, Paris, France.; INSERM U900, Institut Curie, Paris, France., Stoppa-Lyonnet D; Genetics Department, Institut Curie, Paris, France.; SIREDO Oncology Centre, Institut Curie, Paris, France., Delattre O; Genetics Department, Institut Curie, Paris, France.; Inserm U830, PSL University, Research Center, Institut Curie, Paris, France., Colas C; PSL Research University, Paris, France.; Oncogenetic Clinic Unit, Institut Curie, Paris, France., Masliah-Planchon J; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Source: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1206-1209. Date of Electronic Publication: 2023 Nov 27.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
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  Data: Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.
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  Data: <searchLink fieldCode="AU" term="%22Filser+M%22">Filser M</searchLink>; Genetics Department, Institut Curie, Paris, France mathilde.filser@curie.fr.; PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Schwartz+M%22">Schwartz M</searchLink>; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Merchadou+K%22">Merchadou K</searchLink>; PSL Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hamza+A%22">Hamza A</searchLink>; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Villy+MC%22">Villy MC</searchLink>; Oncogenetic Clinic Unit, Institut Curie, Paris, France.; SIREDO Oncology Centre, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Decees+A%22">Decees A</searchLink>; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Frouin+E%22">Frouin E</searchLink>; PSL Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Girard+E%22">Girard E</searchLink>; PSL Research University, Paris, France.; INSERM U900, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Caputo+SM%22">Caputo SM</searchLink>; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Renault+V%22">Renault V</searchLink>; PSL Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Becette+V%22">Becette V</searchLink>; PSL Research University, Paris, France.; Anatomo- and Cyto-pathology, Institut Curie, Saint-Cloud, France.<br /><searchLink fieldCode="AU" term="%22Golmard+L%22">Golmard L</searchLink>; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Servant+N%22">Servant N</searchLink>; PSL Research University, Paris, France.; INSERM U900, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stoppa-Lyonnet+D%22">Stoppa-Lyonnet D</searchLink>; Genetics Department, Institut Curie, Paris, France.; SIREDO Oncology Centre, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Delattre+O%22">Delattre O</searchLink>; Genetics Department, Institut Curie, Paris, France.; Inserm U830, PSL University, Research Center, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Colas+C%22">Colas C</searchLink>; PSL Research University, Paris, France.; Oncogenetic Clinic Unit, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Masliah-Planchon+J%22">Masliah-Planchon J</searchLink>; Genetics Department, Institut Curie, Paris, France.; PSL Research University, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1206-1209. <i>Date of Electronic Publication: </i>2023 Nov 27.
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