VALIDATION OF GENETIC TESTS

摘要

The invention provides a method for validating a genetic test by introducing a simulated mutation into sequence reads. By editing the information in one or more sequence read files, a set of sequence reads can be manipulated to represent an expected genotype. An analysis of those sequence reads produces an observed genotype and concordance between the expected and observed genotypes validates the analysis. Thus, the invention provides methods for validating new genetic tests.