Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Olivier Quenez(Inserm), Gaël Nicolas(Inserm), Isabelle Tournier(Inserm), Nathalie Le Meur(Établissement Français du Sang), François Lecoquierre(Inserm), Edwige Kasper(Inserm), Thierry Frébourg(Inserm), Gaëlle Bougeard(Inserm), Stéphanie Baert‐Desurmont, Emilie Bouvignies(Inserm), Sophie Coutant(Inserm), Gwendoline Lienard(Inserm), Kilan Le Guennec(Inserm), Stéphanie Vasseur(Inserm), Virginie Nguyen-Viet(Inserm), Kévin Cassinari(Université de Pau et des Pays de l'Adour), Anne Boland(Commissariat à l'Énergie Atomique et aux Énergies Alternatives), Pascal Chambon(Université de Pau et des Pays de l'Adour), Myriam Vézain(Inserm), Géraldine Joly‐Hélas(Université de Rouen Normandie), Anne‐Claire Richard(Inserm), Steeve Fourneaux(Inserm), Mathieu Castelain(Inserm), Sandrine Manase(Inserm), Anne Rovelet‐Lecrux(Inserm), Jacqueline Bou(Inserm), Stéphane Rousseau(Inserm), Dominique Campion(Inserm), Jean‐François Deleuze(Fondation Jean Dausset-CEPH), Nathalie Drouot(Centre National de la Recherche Scientifique), Françoise Charbonnier(Inserm), Pascale Saugier-Véber(Inserm)
Cited by 45
Related Papers
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
|Nature Genetics|2013|4.7k
<i>LMO2</i> -Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
|Science|2003|3.5k
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
|Nature Genetics|2019|3.3k
New insights into the genetic etiology of Alzheimer’s disease and related dementias
|Nature Genetics|2022|2.5k
Analysis of shared heritability in common disorders of the brain
|Science|2018|2k