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Reference: Gerrard, G, Valgañón, M, Foong, HE et al., (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 (4), 530-536.Citable link to this page:

 

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

Abstract: 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 validated inactivating mutations in 15/17 (88%) DBA patients. Target enrichment combined with high-throughput sequencing is a robust and improved methodology for the genetic diagnosis of DBA.

Peer Review status:Peer reviewedPublication status:PublishedVersion:Accepted Manuscript Funder: Imperial Healthcare Comprehensive Biomedical Research Centre   Notes: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.

Bibliographic Details

Publisher: John Wiley and Sons Ltd

Publisher Website: http://onlinelibrary.wiley.com/

Journal: British journal of haematologysee more from them

Publication Website: http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2141

Issue Date: 2013-08

pages:530-536Identifiers

Urn: uuid:295d9226-b26c-42dc-b3c8-82d6e41ffdf4

Source identifier: 508086

Eissn: 1365-2141

Doi: https://doi.org/10.1111/bjh.12397

Issn: 0007-1048 Item Description

Type: Journal article;

Language: eng

Version: Accepted ManuscriptKeywords: Humans Anemia, Diamond-Blackfan Ribosomal Proteins DNA, Ribosomal Codon, Nonsense Sequence Alignment Sequence Analysis, DNA DNA Mutational Analysis Sequence Deletion Frameshift Mutation Gene Library Adolescent Adult Child Child, Preschool Female Male High-Throughput Nucleotide Sequencing Tiny URL: pubs:508086

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Autor: Gerrard, G - - - Valgañón, M - - - Foong, HE - - - Kasperaviciute, D - - - Iskander, D - - - Game, L - - - Müller, M - - - Ait

Fuente: https://ora.ox.ac.uk/objects/uuid:295d9226-b26c-42dc-b3c8-82d6e41ffdf4



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