Adaptive nanopore sequencing to determine pathogenicity of <i>BRCA1</i> exonic duplication.

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作者： Mathilde,Filser ^[1] ; Mathias,Schwartz ^[2] ; Kevin,Merchadou ^[3] ; Abderaouf,Hamza ^[2] ; Marie-Charlotte,Villy ^[4] ; Antoine,Decees ^[2] ; Eléonore,Frouin ^[3] ; Elodie,Girard ^[5] ; Sandrine M,Caputo ^[2] ; Victor,Renault ^[3] ; Véronique,Becette ^[6] ; Lisa,Golmard ^[2] ; Nicolas,Servant ^[5] ; Dominique,Stoppa-Lyonnet ^[7] ; Olivier,Delattre ^[8] ; Chrystelle,Colas ^[9] ; Julien,Masliah-Planchon ^[2]

作者单位： Genetics Department, Institut Curie, Paris, France mathilde.filser@curie.fr.;PSL Research University, Paris, France. ^[1] Genetics Department, Institut Curie, Paris, France.;PSL Research University, Paris, France. ^[2] PSL Research University, Paris, France.;Clinical Bioinformatics Unit, Institut Curie, Paris, France. ^[3] Oncogenetic Clinic Unit, Institut Curie, Paris, France.;SIREDO Oncology Centre, Institut Curie, Paris, France. ^[4] PSL Research University, Paris, France.;INSERM U900, Institut Curie, Paris, France. ^[5] PSL Research University, Paris, France.;Anatomo- and Cyto-pathology, Institut Curie, Saint-Cloud, France. ^[6] Genetics Department, Institut Curie, Paris, France.;SIREDO Oncology Centre, Institut Curie, Paris, France. ^[7] Genetics Department, Institut Curie, Paris, France.;Inserm U830, PSL University, Research Center, Institut Curie, Paris, France. ^[8] PSL Research University, Paris, France.;Oncogenetic Clinic Unit, Institut Curie, Paris, France. ^[9]

关键词 Gene Rearrangement Genetic Counseling Genetic Predisposition to Disease Molecular Diagnostic Techniques Nanopore Sequencing