Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

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Figure 2.
Figure 2.

MeltMADGE analysis (undertaken blind to sample information) of amplicon 11B in a panel of 94 cases. Three different mutations, circled numbers 71, 83, and 87 (1138delG, 1218insA, 1131A→T, respectively), and one polymorphism (1187A→G), samples 5, 8, 23, 29, 47, 51, 60, 61, 72, 76, and 92, were identified. Adjacent tracks outside the 8 × 12 96-well array were loaded with known mutation amplicons (tracks A, B, and C) and wild-type amplicon (D).

This Article

  1. Genome Res. 15: 967-977

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