09 September 2022 0 8K Report

Hello dear colleagues. I have a relatively frequent variant (MAF ~ 3% in general population). Using minigene assay i found out that it leads to some amount of exon skipping and subsecuent nonsense mediated decay. I want to verify this result using freely available rna-seq data and detect some allelic imbalance for this variatn there. I allready checked the available rna-seq data for 1000 genomes project (Geuvadis) but it only contains lymphoblastoid cell lines in which my gene expressed at very low level. Is there any other possible tools and resourses for this purpose? Thank you.

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