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different gene set gives different results for same fusion

Open mhanbioinfo opened this issue 1 year ago • 0 comments

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?

mhanbioinfo avatar May 24 '23 17:05 mhanbioinfo