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
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmg-2023-109155