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Fig. 1.

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DNA sequence capture and sample quality assessment. (A) A genomic DNA sample is incubated with thousands of single-stranded long padlock probes (LPPs) each of which target a specific genomic region (e.g., intronic sequence flanking an exon). Following annealing, gap filling by a DNA polymerase and probe circularization by ligation, the captured targets are amplified in multiplex using a primer pair common to all probes. The entire capture pool of one sample is hybridized to a resequencing microarray containing the complementary sequences. (B) A statistical analysis of array quality measures (R, D, and T) is used in combination to monitor the capturing yield and identify failed targets (red dots) in each sample preparation.

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