Article
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Human mutation - 1 Jul 2013
Sikkema-Raddatz Birgit, Johansson Lennart F, de Boer Eddy N, Almomani Rowida, Boven Ludolf G, van den Berg Maarten P, van Spaendonck-Zwarts Karin Y, van Tintelen J Peter, Sijmons Rolf H, Jongbloed Jan D H, Sinke Richard J
Abstract excerpt
Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage of exons leading to missing clinically relevant mutations. Targeted next-generation sequencing (NGS), in which a selected fraction of genes is sequenced, may circumvent these shortcomings....
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