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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Publicado no:NPJ Genom Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha: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
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