mitylib/annot/mitotip_score_fixed_del.csv: The MitoTip_interpretations column values have been changed. The values can be likely pathogenic, possibly pathogenic, likely benign or possibly benign depending on the Mitotip_Percentile column value according to this table. Additionally, some variants have values "Confirmed pathogenic" according to the list of confirmed pathogenic variants on MitoMap.
mitylib/report.py: Updated documentation for "MitoTip_interpretation" to include Confirmed pathogenic variants.
Known conflict:
Some variants having Confirmed pathogenic status in the MitoTip_interpretation column in mitylib/annot/mitotip_score_fixed_del.csv may have a reported value in the "status_mitomap" column of mitylib/annot/mitomap_panel_annotations.csv.
Next step: Update mitylib/annot/mitomap_panel_annotations.csv file to the latest version
Addresses issue #14
Changes have been made to two files:
likely pathogenic
,possibly pathogenic
,likely benign
orpossibly benign
depending on the Mitotip_Percentile column value according to this table. Additionally, some variants have values "Confirmed pathogenic" according to the list of confirmed pathogenic variants on MitoMap.Known conflict:
Confirmed pathogenic
status in the MitoTip_interpretation column in mitylib/annot/mitotip_score_fixed_del.csv may have areported
value in the "status_mitomap" column of mitylib/annot/mitomap_panel_annotations.csv.