OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous neurodevelopmental or malformation disorders. There...

Descripción completa

Detalles Bibliográficos
Autores principales: Colin, Estelle, Duffourd, Yannis, Tisserant, Emilie, Relator, Raissa, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Delanne, Julian, Jean-Marçais, Nolwenn, Keren, Boris, Isidor, Bertrand, Vincent, Marie, Mignot, Cyril, Heron, Delphine, Afenjar, Alexandra, Heide, Solveig, Faudet, Anne, Charles, Perrine, Odent, Sylvie, Herenger, Yvan, Sorlin, Arthur, Moutton, Sébastien, Kerkhof, Jennifer, McConkey, Haley, Chevarin, Martin, Poë, Charlotte, Couturier, Victor, Bourgeois, Valentin, Callier, Patrick, Boland, Anne, Olaso, Robert, Philippe, Christophe, Sadikovic, Bekim, Thauvin-Robinet, Christel, Faivre, Laurence, Deleuze, Jean-François, Vitobello, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650323/
https://www.ncbi.nlm.nih.gov/pubmed/36393831
http://dx.doi.org/10.3389/fcell.2022.1021785

Ejemplares similares

Ejemplares similares