Detection of gene fusions by intragenic differential expression (IDE) using average cycle thresholds
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United States of America Patent
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Mar 13, 2018
Grant Date -
Oct 1, 2015
app pub date -
Mar 24, 2015
filing date -
Mar 25, 2014
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Abstract
Described herein are methods and kits for detecting the presence or absence of gene dysregulations such as those arising from gene fusions and/or chromosomal abnormalities, e.g. translocations, insertions, inversions and deletions. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5′ portion of a target gene relative to the 3′ region of the target gene. The average expression of the 5′ portion of the target gene is compared with the average expression of the 3′ portion of the target gene to determine an intragenic differential expression (IDE). The IDE can then be used to determine if a dysregulation or a particular disease (or susceptibility to a disease) is present or absent in a subject or sample.
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