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prepare release 1.0.3 #28

Merged
merged 49 commits into from
Jul 9, 2024
Merged

prepare release 1.0.3 #28

merged 49 commits into from
Jul 9, 2024

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dboceck
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@dboceck dboceck commented Jul 9, 2024

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dboceck and others added 30 commits May 2, 2022 14:46
…uses the short version of chromosome identifiers
…EBUG mode

- log file can now be saved at a custom location
- workdir now points to a temporary directory if not specified
…atabases. Added TODO to handle such things in general to not break the program if new terms are introduced.
…nt representation to make comparison with inhouse samples easier.
…iles according to inheritance mode if TRIO sample analysis
…dd functionality to obtain the percentage of missing features per variant.
…ntations. Optimize weighting in prioritization step.
Dominic Boceck and others added 19 commits September 19, 2023 15:30
- ADDED binary feature indicating the impact class of the variant
- IMPROVED various filter steps in the prioritization and scoring part
- EXCHHANGED the splicing scores (dbscSNV) with SpliceAI
- IMPROVED missing value imputation
- IMPROVED InDel combination
ADD new parameter --top_rank to specify the maximum rank if only the top results are reported
Refactoring was done
…ipt filtering when choosing the right feature annotation if multiple transcripts where annotated for a variant.
@dboceck dboceck merged commit 164f065 into master Jul 9, 2024
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