exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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Add analysis strategies to docs #492

Open julesjacobsen opened 1 year ago

julesjacobsen commented 1 year ago

There are probably too many confusing example input files in the cli examples directory which leads to people rolling their own sub-optimal analysis steps.

Getting the best from Exomiser should be described in a new section of the documentation. This should include:

pnrobinson commented 1 year ago

This article can be cited for choosing HPO terms -- https://pubmed.ncbi.nlm.nih.gov/31479590/