Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

作者: Morag E Shanks , Susan M Downes , Richard R Copley , Stefano Lise , John Broxholme

DOI: 10.1038/EJHG.2012.172

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摘要: … was variability in the capture efficiency, reflected by the variability of alignment (10–76%, average 58%), which is similar to other reports of hybridisation-based capture. We also found …

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