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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901453/
https://www.ncbi.nlm.nih.gov/pubmed/31839986
http://dx.doi.org/10.1038/s41525-019-0104-9

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