Method of identifying genomic rearrangements

Details Method of identifying genomic rearrangements Method of identifying genomic rearrangements

2005-05-17

2005-05-17

Brusca, John S. (Department: 1631)

Data processing: measuring, calibrating, or testing

Measurement system in a specific environment

Biological or biochemical

C365S094000, C700S001000

Reexamination Certificate

active

06895337

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.

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