Diamond-Blackfan anaemia (DBA) is caused by inactivating mutations in ribosomal protein (RP) genes, with mutations in 13 of the 80 RP genes accounting for 50-60% of cases. The remaining 40-50% cases may harbour mutations in one of the remaining RP genes, but the very low frequencies render conventional genetic screening as challenging. We, therefore, applied custom enrichment technology combined with high-throughput sequencing to screen all 80 RP genes. Using this approach, we identified and ...Expand abstract
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- Copyright © 2013 John Wiley and Sons Ltd. This is the peer reviewed version of the following article: Gerrard, G., Valgañón, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Müller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L. and Karadimitris, A. (2013), Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. British Journal of Haematology, 162: 530–536., which has been published in final form at http://dx.doi.org/10.1111/bjh.12397. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.
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