The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
May. 17, 2005
Filed:
Oct. 15, 2002
Thomas Scholl, Salt Lake City, UT (US);
Dmitry Pruss, Salt Lake City, UT (US);
Brant C. Hendrickson, South Jordan, UT (US);
Thomas Scholl, Salt Lake City, UT (US);
Dmitry Pruss, Salt Lake City, UT (US);
Brant C. Hendrickson, South Jordan, UT (US);
Myriad Genetics, Inc., Salt Lake City, UT (US);
Abstract
Methods, computer program products and systems are provided for detecting large genomic rearrangements based on unphased genotype data obtained using common genotyping techniques that do not differentiate different alleles. In the method, unphased genotypes at a plurality of nucleotide variant markers of a particular gene in a diploid subject are compared with a canonical haplotype collection of the gene for a heterogeneous subject population. If the unphased genotypes cannot be reduced to a pair of canonical haplotypes within the canonical haplotype collection, it would indicate an increased likelihood that an allele of the gene in the diploid subject harbors a genomic rearrangement.