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Document which variant catalogs to use for expansionhunter-stranger #439

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jemten opened this issue Oct 26, 2023 · 1 comment · Fixed by #443

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jemten commented Oct 26, 2023

From conversation with on slack. The documentation doesn't tell you that you can't use the illumina variant catalog for the Expansionhunter - Stranger subworkflow. That catalog lacks the info on what is the normal maximum expansions before the repeat turns pathogenic. We should point the user to the ones defined here: https://github.com/Clinical-Genomics/reference-files/tree/master/rare-disease/disease_loci/ExpansionHunter-v5.0.0

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          fixes #439

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Document which variantcatalogs to use #443

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Document which variantcatalogs to use #443

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jemten commented Nov 15, 2023

done in #443

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