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AssigneePersonal Genome Diagnostics Inc.
InventorsJohn Thompson, Derek Murphy, Gustavo Cerqueira, Cindy Maddox, Laurel Keefer
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The disclosure provides a synthetic standard which includes polynucleotides (e.g., DNA or RNA) containing multiple clinically important germline and somatic variants. These materials are utilized to calibrate, evaluate, and/or validate the performance of polynucleotide-based genetic analysis assays, such as NGS assays. In one aspect the disclosure provides a method for validating assay performance including generating synthetic variant DNA fragments comprising variants with known allele frequencies, wherein the fragments comprise a molecular tag; combining the synthetic variant DNA with wild-type DNA to create test samples; preparing one or more dilutions of the test samples; performing an assay of interest on the one or more dilutions of test samples; and comparing the outcome of the assay with the test samples with known allele frequencies of interest, thereby validating the performance of the assay.
A method for validating assay performance comprising:
A method of detecting a disease or disorder, or severity of a disease or disorder, in a subject comprising:
A method of detecting drug resistance in a subject comprising:
Dependencies are inferred from the claim text.