METHODS FOR DETERMINING CARRIER STATUS

摘要

The invention generally relates to methods for determining carrier status with respect to a condition or disease. In certain embodiments, the method involves exposing a sample to a plurality of molecular inversion probes capable of capturing DNA from at least one genomic region suspected of having an altered copy number and at least one internal control DNA known or suspected to have a stable copy number, capturing and sequencing DNA that binds to the molecular inversion probes, and determining a copy number state of the at least one genomic region based on the sequence results.

主权项

1. A method for determining copy number state of a gene, the method comprising:
exposing a plurality of molecular inversion probes to target DNA from a genomic region suspected of having an altered copy number and control DNA having a stable copy number; capturing DNA that binds the molecular inversion probes; sequencing the captured DNA to produce target sequence reads and control sequence reads; obtaining target read counts from the target sequence reads and control read counts from the control sequence reads; normalizing the target read counts with respect to the control read counts to obtain normalized target read counts and obtaining normalized control read counts; and determining a copy number state for the genomic region by comparing the normalized target read counts to the normalized control read counts.