Methods for copy number determination
AssigneeMolecular Loop Corporation
InventorsMark Umbarger, Eric D. Boyden
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Abstract
The invention generally relates to a method for determining carrier or disease status with respect to a particular disease or condition. In certain embodiments, methods of the invention involve obtaining a sample including nucleic acid from a subject. The nucleic acid includes a genomic locus that is diagnostic for an autosomal recessive disease. The nucleic acid is captured and isolated from the sample and further sequenced. The method further includes analyzing sequence reads to determine a copy number of the captured nucleic acid and further determine a disease status based upon the copy number.
Claims10
A method for determining carrier status of an autosomal recessive disease, the method comprising the steps of:
- capturing, using molecular inversion probes, nucleic acid corresponding to a first locus that is linked to a second locus, wherein the second locus is diagnostic for an autosomal recessive disease;
- sequencing said captured nucleic acid;
- measuring a copy number of the first locus;
- inferring a copy number of the second locus based on the copy number of the first locus;
- and
- determining disease status based upon the inferred copy number of the second locus.
Dependencies are inferred from the claim text.