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 one or more genes in a sample, the method comprising the steps of:
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 DNA that binds said molecular inversion probes; sequencing DNA obtained in said capture step; normalizing read counts obtained in said sequencing step for said at least one genomic region with respect to said internal control DNA; comparing said normalized read counts to read counts for at least one control diploid locus; and determining a copy number state of said at least one genomic region.