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PEDIA-Charite / PEDIA-workflow

PEDIA-workflow prioritizes the disease-causing gene by integrating facial analysis and exome sequencing data.
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Always keep reference transcript in hgvs string formatting #57

Closed xiamaz closed 6 years ago

xiamaz commented 6 years ago

See Trello for specific information.

This should fix issues with failures of Jannovar to parse delins with missing reference transcripts.