Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Autor: Anne-Claire Richard, Anne Rovelet-Lecrux, Dominique Campion, Sophie Coutant, Kilan Le Guennec, Jean-François Deleuze, Gaëlle Bougeard, Mathieu Castelain, Nathalie Drouot, Pascal Chambon, Stéphanie Vasseur, Thierry Frebourg, Jacqueline Bou, François Lecoquierre, Anne Boland, Géraldine Joly-Helas, Kévin Cassinari, Gaël Nicolas, Stéphane Rousseau, Steeve Fourneaux, Gwendoline Lienard, Edwige Kasper, Myriam Vezain, Pascale Saugier-Veber, Isabelle Tournier, Nathalie Le Meur, Olivier Quenez, Françoise Charbonnier, Emilie Bouvignies, Virginie N'Guyen-Viet, Stéphanie Baert-Desurmont, Sandrine Manase

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet

International audience; The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-based or targeted techniques are still commonly used. We assessed the performances of a workflow centered on CANOES, a bioinformatics tool

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a6f3ab544384d46aa5c88805403359
https://doi.org/10.1038/s41431-020-0672-2

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium

Autor: Thierry Frebourg, Gwendoline Lienard, Stéphanie Baert-Desurmont, Camille Tlemsani, Nadim Hamzaoui, Lisa Golmard, Michel Bahuau, Gaëlle Bougeard, Edwige Kasper, Vincent Goussot, Stéphane Pinson, Elodie Lacaze, Marie-Pascale Beaumont, Emmanuelle Barouk Simonet, Sandrine Manase, Christine Toulas, Sophie Lejeune, Nancy Uhrhammer, Flavie Boulouard, Jacques Mauillon, Véronica Cusin, Stéphanie Vasseur, Marion Dhooge, Marie-Pierre Buisine, Claude Houdayer, Virginie Bubien, Florence Coulet, Jean-Marc Rey

Publikováno v: Clinical geneticsREFERENCES. 99(5)

Biallelic pathogenic variants in the NTHL1 (Nth Like DNA Glycosylase 1) gene cause a recently identified autosomal recessive hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also displ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::955dcc3e9efb93f91efa2ff0000996b5
https://pubmed.ncbi.nlm.nih.gov/33454955

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

Autor: Michel Longy, Gaëlle Bougeard, Steeve Fourneaux, Léa Guerrini-Rousseau, Bruno Leheup, Edwige Kasper, Myriam Vezain, Jean-Christophe Sabourin, Ludovic Mansuy, Nicolas Sevenet, Isabelle Tournier, Sandrine Manase, Thierry Frebourg, Stéphanie Baert-Desurmont, Jacqueline Champigneulle, Pierre Fermey, Mariette Renaux-Petel, Jean-Christophe Thery, Françoise Charbonnier, Laurence Brugières, Maud Blanluet, Brigitte Bressac-de Paillerets, Jacqueline Bou, Sophie Coutant, Céline Chappé, Olivier Caron, Gwendoline Lienard

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩

BackgroundDevelopment of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d48a62eade871627bfb7bcfba020ecd
https://hal.archives-ouvertes.fr/hal-02355680