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Figure 2 | Acta Neuropathologica Communications

Figure 2

From: MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

Figure 2

NGS targeting workflow. Ninety-three disease genes causing a muscular phenotype were selected. To cover all their exons and the ten flanking bases, an enrichment strategy, based on HaloPlex system, was designed. DNA samples of 80 patients were analyzed twice in an independent manner, using a combinatorial pooling scheme. As requested by HaloPlex protocol, DNA samples were digested, barcoded and amplified. The 80 samples were run at the same time in a single lane of the flow cell of HiSeq 1000. The following data analysis allowed us to detect putative causative variants validated by Sanger sequencing.

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Acta Neuropathologica Communications

ISSN: 2051-5960

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