HL relevant transcripts

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Damianos P. Melidis edited this page Nov 22, 2021 · 1 revision

How to recreate/update Hearing Loss-relevant transcripts

Recreate

Update the paths in script: GenOtoScope/extract_pheno_transcripts.py
Run script and the following output file will be created at path2genotoscope_data/genotoscope_data/annotation_beds/hearing_loss:

pheno_relevant_exons_sorted.bed

Update

Update HL-transcripts file /path2genotoscope_data/genotoscope_data/misc with the new approved transcripts for HL by ClinGen
Apply the "Recreate" steps

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