Patent ID: 11915793
Assignee: LABORATORY CORPORATION OF AMERICA HOLDINGS
Field: Computer technology (Electrical engineering)
Classification: CPC G  C | IPC C  G

Claim 14:
15. A computer-program product tangibly embodied in a non-transitory machine-readable storage medium, including instructions configured to cause one or more data processors to perform actions including:
obtaining raw data from a Fragile X Syndrome (FXS) assay performed on a sample using a genetic analyzer, wherein the raw data comprises gene-specific (GS) polymerase chase reaction (PCR) data and AGG interruption PCR data resolved by capillary electrophoresis;
determining an expected AGG peak size for a first allele identified in the raw data using a first rule based on a number of CGG repeats in the first allele, an expected location of a first AGG interruption in the first allele, and a size of an PCR amplicon used to obtain the raw data;
iteratively searching the raw data and identifying one or more AGG peaks on the first allele using a first set of search spaces determined based on the expected AGG peak size wherein the iteratively searching the raw data and the identifying the one or more AGG peaks comprise:
determining a first search space of the first set of search spaces for the first allele based on the expected AGG peak size;
searching the raw data and identifying an initial AGG peak on the first allele using the first search space;
determining a second search space for the first allele based on a peak size of the initial AGG peak on the first allele; and
iteratively searching the raw data and identifying additional AGG peaks on the first allele using the second search space;

determining a number of CGG repeats downstream of a final AGG interruption on the first allele based on the GS PCR data and the one or more AGG peaks identified on the first allele;
determining a number of CGG repeats preceding a first AGG interruption on the first allele based on the GS PCR data and the one or more AGG peaks identified on the first allele;
generating an AGG genotype for the first allele based on the number of CGG repeats downstream of the final AGG interruption and the number of CGG repeats preceding the first AGG interruption; and
providing the AGG genotype for the first allele.