Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous disorders with cytopenia. Many IBMFSs also feature physical malformations and an increased risk of cancer. Point mutations can be identified in about half of patients. Copy number variation (CNVs) have been reported; howe...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:NPJ Genom Med
Autors principals: Lauhasurayotin, Supanun, Cuvelier, Geoff D., Klaassen, Robert J., Fernandez, Conrad V., Pastore, Yves D., Abish, Sharon, Rayar, Meera, Steele, MacGregor, Jardine, Lawrence, Breakey, Vicky R., Brossard, Josee, Sinha, Roona, Silva, Mariana, Goodyear, Lisa, Lipton, Jeffrey H., Michon, Bruno, Corriveau-Bourque, Catherine, Sung, Lillian, Shabanova, Iren, Li, Hongbing, Zlateska, Bozana, Dhanraj, Santhosh, Cada, Michaela, Scherer, Stephen W., Dror, Yigal
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6901453/
https://ncbi.nlm.nih.gov/pubmed/31839986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-019-0104-9
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars