moonso/query_phenomizer
Command line script for querying the phenomizer tool with HPO terms
Score variants in the [MIP](http://mip-api.readthedocs.org/en/latest/) fashon.
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Command line script for querying the phenomizer tool with HPO terms
Browser based application for viewing bam alignments
Public repository.
Repo with small scripts for analysing mostly genetic variants from vcf files