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

por 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
Publicado 2019

The clinical impact of copy number variants in inherited bone marrow failure syndromes

por Waespe, Nicolas, Dhanraj, Santhosh, Wahala, Manju, Tsangaris, Elena, Enbar, Tom, Zlateska, Bozana, Li, Hongbing, Klaassen, Robert J., Fernandez, Conrad V., Cuvelier, Geoff D. E., Wu, John K., Pastore, Yves D., Silva, Mariana, Lipton, Jeffrey H., Brossard, Joseé, Michon, Bruno, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark J., Breakey, Vicky R., Jardine, Lawrence, Goodyear, Lisa, Kofler, Liat, Cada, Michaela, Sung, Lillian, Shago, Mary, Scherer, Stephen W., Dror, Yigal
Publicado 2017