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

Abstract excerpt

Mutations in ~100 genes cause muscle diseases with complex and often unexplained genotype/phenotype correlations. Next-generation sequencing studies identify a greater-than-expected number of genetic variations in the human genome. This suggests that existing clinical monogenic testing systematically miss very relevant information.We have created a core panel of genes that cause all known forms of nonsyndromic...

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