Is there any tools for detecting Kinase Domain Duplication?
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4.6 years ago

Hello,

Wondering if there are tools to detect Kinase Domain Duplication for whole-exome NGS analysis from normal and tumor samples in cancer? I'm using GATK best practice for detecting CNV and Pindel to detect Internal Tandem Duplication, but I'm not sure if I can use them to detect KDD too.

Thank you

ngs SV • 886 views
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Just a thought on this: I'd assume that you could treat the reference genes with single kinase domains as kind of a collapsed assembly of the diseased genotype. A duplication could then be reflected by increased coverage of the original domains in the reference genes.

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