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v0.31

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@holtgrewe holtgrewe released this 23 May 07:30

This release fixes an important issue with RefSeq transcripts that align with gaps to the genome (issues #447 #450). Overall 500 genes are affected including MYH7! You probably want to upgrade to this release.

jannovar-core

  • Introducing classes for representation of gapped sequences, alignments, and position projection.
  • Fixing bug in ENSEMBL transcript database generation (tx version was appended twice)
  • Adding flags for "has substitutions" and "has indels" to TranscriptModel that get filled for RefSeq transcripts.
  • Correctly parsing of RefSeq transcripts with indels.

jannovar-cli

  • Using HTTP protocol instead of FTP everywhere as it's possible (#451).
  • Fixing HGVS conversion for indels (#452).