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neoepiscope v0.3.0

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@maryawood maryawood released this 04 Mar 17:48
v0.3.0
58d8b17
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Learn about vigilant mode.
  • Corrects previous variant phasing error by including homozygous variants in relevant haplotype blocks
  • Corrects handling of intron-exon boundary deletions to truncate transcripts
  • Corrects annotation of transcripts with start/stop codons split across multiple exons
  • Expands functionality to allow for variant phasing using either HapCUT2 or GATK's ReadBackedPhasing
  • Updates default gene annotation for hg38 to GENCODE v29
  • Updates code for compatibility with intervaltree v3.0.2
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