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Add analysis strategies to docs

Open julesjacobsen opened this issue 1 year ago • 1 comments

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:

  • How to choose the most informative HPO terms
  • Strategies for analysis e.g. exomiser first followed by genomiser
  • Examine the top 5 candidates
  • Use the most recent version and data release
  • How to analyse a trio or quad.
  • Maybe some worked examples?

julesjacobsen avatar Apr 20 '23 06:04 julesjacobsen

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

pnrobinson avatar Apr 20 '23 11:04 pnrobinson