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Release v0.6.2

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@franla23 franla23 released this 08 May 15:25
· 349 commits to master since this release
v0.6.2
a100752
  • ensure correct exon usage in MMSplice annotation (get_exon_skipping_junction / get_exon_inclusion_junction) by comparing genomic location of exons in MMSplice output and genomic location in database
  • two functions to filter for unique junctions based on mut_id, junc_id and tx_id based on the highest effect score (unique_mut_junc() , unique_junc_mmsplice() )
  • Readme now contains information how to optionally consider gene annotation in formatting of SpliceAI and Pangolin results
  • combine_mut_junc() now merges based on mut_id, junc_id, tx_id again. It is recommended to apply the new uniqueness functions (unique_mut_junc() , unique_junc_mmsplice() ) before combining the data
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