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different gene set gives different results for same fusion #41

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mhanbioinfo opened this issue May 24, 2023 · 0 comments
Open

different gene set gives different results for same fusion #41

mhanbioinfo opened this issue May 24, 2023 · 0 comments

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@mhanbioinfo
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Hi thank-you for a great tool. I ran genefuse on my WES data from a sample with a known ETV6--NTRK3 fusion. I ran with druggable.hg38.csv and cancer.hg38.csv which both have ETV6 and NTRK3 gene, the exons and coordinates are identical for these 2 genes in the 2 .csv files. But I only detect the ETV6--NTRK3 fusion if I use the smaller druggable.hg38.csv gene set, and not if I use cancer.hg38.csv. I was wondering if having more genes in cancer.hg38.csv potentially means reads with better alignment to other genes are aligning to those genes rather than ETV6 or NTRK3?

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