| Title: |
Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation |
| Authors: |
Quenez, Olivier; Cassinari, Kevin; Coutant, Sophie; Lecoquierre, Francois; Le Guennec, Kilan; Rousseau, Stéphane; Richard, Anne-claire; Vasseur, Stéphanie; Bouvignies, Emilie; Bou, Jacqueline; Lienard, Gwendoline; Manase, Sandrine; Fourneaux, Steeve; Drouot, Nathalie; Nguyen-Viet, Virginie; Vezain, Myriam; Chambon, Pascal; Joly Helas, Géraldine; Le Meur, Nathalie; Castelain, Mathieu; Boland, Anne; Deleuze, Jean-François; Tournier, Isabelle; Charbonnier, Francoise; Kasper, Edwige; Bougeard, Gaëlle; Frebourg, Thierry; Saugier-Veber, Pascale; Baert-Desurmont, Stephanie; Campion, Dominique; Rovelet-Lecrux, Anne; Nicolas, Gaël |
| Contributors: |
Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND); Université de Rouen Normandie (UNIROUEN); Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM); Centre National en Génomique Humaine, Institut de Génomique, CEA, Evry, France; Department of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France |
| Source: |
https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979 ; 2019. |
| Publisher Information: |
HAL CCSD |
| Publication Year: |
2019 |
| Collection: |
Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe) |
| Subject Terms: |
Bioinformatics; Panel; Exome; Sensitivity; CANOES; CNVs detection; Read-depth information; [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry; Molecular Biology/Genomics [q-bio.GN] |
| Document Type: |
report |
| Language: |
English |
| Relation: |
hal-02317979; https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979; https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979v2/document; https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979v2/file/Detection%20of%20copy%20number%20variations%20from%20NGS%20data%20using%20read%20depth%20information_%20a%20diagnostic%20performance%20evaluation.pdf |
| Availability: |
https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979; https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979v2/document; https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979v2/file/Detection%20of%20copy%20number%20variations%20from%20NGS%20data%20using%20read%20depth%20information_%20a%20diagnostic%20performance%20evaluation.pdf |
| Rights: |
info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.30382745 |
| Database: |
BASE |