how to identify the rare tumor-specific AS events by majiq

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sotaro kanematsu

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Nov 18, 2024, 6:30:24 PMNov 18
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Thank you very much for developing such a user-friendly analysis tool. I am currently using MAJIQ to identify tumor-specific splicing variants. My analysis includes approximately 1,000 tumor samples and 800 non-tumor samples.

In general, based on examples like MET exon 14 skipping, tumor-specific splicing variants are considered extremely rare events, likely occurring in less than 1% of certain tumor types. I read the MAJIQlopedia paper summarizing cancer RNA splicing isoforms using TCGA data, but I noticed that the Methods section did not provide detailed explanations regarding the scripts used.

Could you please share your insights on the best approach to analyze and identify extremely rare tumor-specific splicing variants using MAJIQ?

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