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List Denovo DB

Command examples:

atav.sh --list-denovo-db --variant PATH_TO_YOUR_VARIANT_FILE --out PATH_TO_OUTPUT_DIR

Command options:

--list-denovo-db: trigger list denovodb function.

--variant: use a variant id file (one id per line) or a variant id list (comma delimited)

id format: chr-pos-ref-alt

Output:

denovodb.csv

  • Variant ID
  • DenovoDB Phenotype
  • DenovoDB PubmedID

For additional details, please check DenovoDB