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@MichaelStromberg MichaelStromberg released this 01 Oct 18:17
· 46 commits to main since this release

Features

Issue key Summary
NIR-678 Update OMIM to the August 2021 version
NIR-674 Update ClinVar to the August 2021 version
NIR-671 Optimize memory for JSON outputs

Bugs fixed

Issue key Summary
NIR-724 Buffer overrun in BgzipTextWriter
NIR-663 Nirvana λ is unable to handle empty VCF files
NIR-549 JWT validator doesn't work for api regions
NIR-212 Annotation lambdas run out of disk space when large amounts of CA are submitted

Unresolved bugs

Issue key Summary
NIR-759 Nirvana lambda throws Nirvana error when signature expires
NIR-703 Nirvana incorrectly handles deletions across the terminal codon in HGVS p.
NIR-702 Nirvana should stop after inserted terminal codon in HGVS p.
NIR-701 Nirvana should simplify HGVS p. notation for deletions that disrupt the initiation codon
NIR-667 Nirvana is unable to count the # of AA until new stop codon (HGVS p. frameshift)
NIR-666 Nirvana creates frameshift HGVS p. notation when extension is expected
NIR-665 Nirvana uses incorrect HGVS p. notation for disrupted translation initiation codons
NIR-602 SAUtils CustomVar won't allow missing values for Score columns
NIR-582 Jasix incorrectly closes the JSON header when combining query with header
NIR-504 SingleAnnotation behaves differently in Lambda vs REST API
NIR-479 Single Annotation lambda should handle incorrect alt alleles more robustly
NIR-220 Incorrect HGVS p. results because Nirvana does not use the transcript sequence
NIR-219 Nirvana reports incorrect HGVS p. for non-AUG start codon variants
NIR-215 Nirvana incorrectly determines gnomAD low complexity regions at translocation breakend boundaries
NIR-86 Nirvana incorrectly handles insertions where RNA-edit insertions already occur
NIR-56 CDS position goes beyond the CDS sequence length (NM_001300952.1)