Article
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
Nature biotechnology - 1 Oct 2014
de Vree Paula J P, de Wit Elzo, Yilmaz Mehmet, van de Heijning Monique, Klous Petra, Verstegen Marjon J A M, Wan Yi, Teunissen Hans, Krijger Peter H L, Geeven Geert, Eijk Paul P, Sie Daoud, Ylstra Bauke, Hulsman Lorette O M, van Dooren Marieke F, van Zutven Laura J C M, van den Ouweland Ans, Verbeek Sjef, van Dijk Ko Willems, Cornelissen Marion, Das Atze T, Berkhout Ben, Sikkema-Raddatz Birgit, van den Berg Eva, van der Vlies Pieter, Weening Desiree, den Dunnen Johan T, Matusiak Magdalena, Lamkanfi Mohamed, Ligtenberg Marjolijn J L, ter Brugge Petra, Jonkers Jos, Foekens John A, Martens John W, van der Luijt Rob, van Amstel Hans Kristian Ploos, van Min Max, Splinter Erik, de Laat Wouter
Abstract excerpt
Despite developments in targeted gene sequencing and whole-genome analysis techniques, the robust detection of all genetic variation, including structural variants, in and around genes of interest and in an allele-specific manner remains a challenge. Here we present targeted locus amplification (...
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