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Support for T2T: generate Refseq and transcriptome data. #10

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@apraga apraga commented Aug 12, 2023

T2T support by updating refseq and transcriptome data generation. Some minor changes into the main script file to accomodate this new genome (command-line options).

T2T does not provide exactly the same RefSeq curated bed file. We download a BigBed file, convert it to bed and store it as RData using some columns permutations. Transcriptome data is generated likewise.

Note:

  • This requires the bigBedToBed executable (downloaded by the script). The script uses chmod +x, which is a security issue
  • Tested on 5 pathogenic variant (score 98%) and one with a score of 38% using a manually lifted version.

This requires the bigBedToBed executable (downloaded by the script).
The bed file for refseq has columns permutated so some rearrangement is needed.
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