Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

We have developed a mutation-scanning approach suitable for whole population screening for unknown mutations. The method, meltMADGE, combines thermal ramp electrophoresis with MADGE to achieve suitable cost efficiency and throughput. The sensitivity was tested in blind trials using 54 amplicons repr...

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Detalhes bibliográficos
Main Authors: Alharbi, Khalid K., Aldahmesh, Mohammed A., Spanakis, Emmanuel, Haddad, Lema, Whittall, Roslyn A., Chen, Xiao-he, Rassoulian, Hamid, Smith, Matt J., Sillibourne, Julie, Ball, Nicola J., Graham, Nikki J., Briggs, Patricia J., Simpson, Iain A., Phillips, David I.W., Lawlor, Deborah A., Ye, Shu, Humphries, Stephen E., Cooper, Cyrus, Smith, George Davey, Ebrahim, Shah, Eccles, Diana M., Day, Ian N.M.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2005
Assuntos:
Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1172041/
https://ncbi.nlm.nih.gov/pubmed/15998910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.3313405
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