Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

doi:10.1371/journal.pone.0078496

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Article

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PloS one - 1 Jan 2013

Eisenberger Tobias, Neuhaus Christine, Khan Arif O, Decker Christian, Preising Markus N, Friedburg Christoph, Bieg Anika, Gliem Martin, Charbel Issa Peter, Holz Frank G, Baig Shahid M, Hellenbroich Yorck, Galvez Alberto, Platzer Konrad, Wollnik Bernd, Laddach Nadja, Ghaffari Saeed Reza, Rafati Maryam, Botzenhart Elke, Tinschert Sigrid, Börger Doris, Bohring Axel, Schreml Julia, Körtge-Jung Stefani, Schell-Apacik Chayim, Bakur Khadijah, Al-Aama Jumana Y, Neuhann Teresa, Herkenrath Peter, Nürnberg Gudrun, Nürnberg Peter, Davis John S, Gal Andreas, Bergmann Carsten, Lorenz Birgit, Bolz Hanno J

Abstract excerpt

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has proven useful to overcome this limitation. To uncover "hidden mutations" such as copy number variations (CNVs) and mutations in non-coding regions, we extended the use...

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PMID: 24265693
DOI: 10.1371/journal.pone.0078496
PMCID: PMC3827063

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