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@moonso moonso released this 17 Dec 13:56
4b636f9

Added

  • Mosaicism tag on variants
  • Show and filter on SweGen frequency for SVs
  • Show annotations for STR variants
  • Show all transcripts in verification email
  • Added mitochondrial export
  • Adds alternative to search for SVs shorter that the given length
  • Look for 'bcftools' in the set field of VCFs
  • Display digenic inheritance from OMIM
  • Displays what refseq transcript that is primary in hgnc

Fixed

  • Archived panels displays the correct date (not retroactive change)
  • Fixed problem with waiting times in gene panel exports
  • Clinvar fiter not working with human readable clinsig values