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3.14

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@MichaelStromberg MichaelStromberg released this 20 Jan 01:32
· 91 commits to main since this release

Features

Issue key Summary
NIR-210 Cap VRF to 0.999

Bugs fixed

Unresolved bugs

Issue key Summary
NIR-220 Nirvana doesn't use the transcript sequence to report the reference amino acids in HGVS p. notations
NIR-219 Nirvana reports ambiguous protein level annotations for CUG start codon variants
NIR-218 Duplicates may be marked as insertions in HGVS
NIR-217 Nirvana produces HGVS insertions notations that are more than one bp apart
NIR-216 Nirvana reports extra ClinVar SNVs where there is no alternate allele in XML source file
NIR-215 Nirvana incorrectly determines gnomAD low complexity regions at translocation breakend boundaries
NIR-214 Nirvana doesn't support regular gzip VCF file
NIR-213 Downloader unintentionally removes genomic reference file
NIR-212 Annotation lambdas run out of disk space when large amounts of CA are submitted
NIR-91 Nirvana should fully right align duplications in HGVS c. notation
NIR-87 Nirvana should detect duplications in HGVS by looking at the transcript sequence.
NIR-86 Nirvana incorrectly handles insertions where RNA-edit insertions already occur
NIR-75 Nirvana doesn't handle 3' UTR intron HGVS c. notation properly
NIR-57 Nirvana produces bizarre HGVS p. notation (NP_001137434.1:p.(Val701_?_fsTer?))
NIR-56 CDS position goes beyond the CDS sequence length (NM_001300952.1)
NIR-55 Nirvana produces a strange CDS position range for NM_001346067.1