Clinical-Genomics / genmod

Annotate models of genetic inheritance patterns in variant files (vcf files)
http://Clinical-Genomics.github.io/genmod/
MIT License
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Fix #127 - update examples #144

Closed dnil closed 3 weeks ago

dnil commented 1 month ago

Description

Fixed

How to prepare for test

How to test

Expected test outcome

Review

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Implementation Plan

dnil commented 3 weeks ago

I noted that MIP still has support for the --whole-gene so I left it there again. It would formally be a major bump when it goes. Let's synk that with something that really needs doing. I marked it more clearly so we don't loose it again.

(genmod) ➜  genmod git:(fix_doc_examples) ✗ genmod models --help
Usage: genmod models [OPTIONS] <vcf_file> or -

  Annotate genetic models for vcf variants.

  Checks what patterns of inheritance that are followed in a VCF file. The
  analysis is family based so each family that are specified in the family
  file and exists in the variant file will get it's own annotation.

  Note that the "whole_gene" flag has been disabled and will be removed in a
  later version.

Options:
  -f, --family_file <ped_file>
  -t, --family_type [ped|alt|cmms|mip]
                                  If the analysis use one of the known setups,
                                  please specify which one.
  -r, --reduced_penetrance, --reduced-penetrance <tsv_file>
                                  File with gene ids that have reduced
                                  penetrance.
  --vep                           If variants are annotated with the Variant
                                  Effect Predictor.
  --phased                        If data is phased use this flag.
  -s, --strict                    If strict model annotations should be
                                  used(see documentation).
  -w, --whole_gene, --whole-gene  DEPRECATED FLAG - on by default
  -p, --processes INTEGER         Define how many processes that should be use
                                  for annotation.
  -s, --silent                    Do not print the variants.
  -k, --keyword TEXT              What annotation keyword that should be used
                                  when  searching for features.
  -o, --outfile FILENAME          Specify the path to a file where results
                                  should be stored.
  --temp_dir PATH                 Path to tempdir
  --help                          Show this message and exit.