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mobidic / SEAL

SEAL db - Simple, Efficient And Lite database for NGS
GNU General Public License v3.0
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inconsistancy between panel and transcript gene symbols #18

Closed vidboda closed 2 years ago

vidboda commented 2 years ago

Hi,

gene symbols used in panel definition and transcripts may be different: e.g., for GSDME, the panel definition only accepts current HGNC GSDME while in the transcripts table it is referenced as DFNA5.

Char-Al commented 2 years ago

Indeed, for the definition of the panel a script creates the regions corresponding to all the genes contained in the file ncbiRefSeq.txt.gz while the table of transcripts comes from the vep annotation. So it can be slightly different...