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15 Open 25 Closed
15 Open 25 Closed
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Issues list

Port over biocommon/hgvs#719 (Fix ins or dups where splice region is preserved) enhancement New feature or request
#194 opened Jul 24, 2024 by holtgrewe
Port over biocommons/hgvs#709 (Fix variant region for ins and dup on intron-exon boundary) enhancement New feature or request
#193 opened Jul 24, 2024 by holtgrewe
Address stop codon recoding / stop codon readthrough (SCR) enhancement New feature or request
#143 opened Nov 10, 2023 by holtgrewe
2
Allow predictions even for transcripts that have more than one stop codon enhancement New feature or request
#130 opened Oct 21, 2023 by holtgrewe
@holtgrewe
1
Support representing repeated sequences from varnomen enhancement New feature or request
#126 opened Jul 19, 2023 by holtgrewe
Use features to opt-in into sqlite3 and libpostgres dependencies enhancement New feature or request
#122 opened Jul 6, 2023 by holtgrewe
Switch from lazy_static to once_cell enhancement New feature or request
#84 opened Apr 4, 2023 by holtgrewe
Potentially incorrect prection results enhancement New feature or request
#63 opened Mar 27, 2023 by holtgrewe
Split provider interface enhancement New feature or request
#46 opened Mar 13, 2023 by holtgrewe
Port over clinvar tests enhancement New feature or request
#34 opened Mar 2, 2023 by holtgrewe
Finish porting over test_hgvs_grammar.py enhancement New feature or request
#30 opened Mar 2, 2023 by holtgrewe
Implement translation between HGVS and VCF enhancement New feature or request
#29 opened Mar 2, 2023 by holtgrewe
Fix intronic dup prediction issue from DNA11-dbSNP.tsv enhancement New feature or request
#28 opened Mar 2, 2023 by holtgrewe
Allow for configuring how Display works enhancement New feature or request
#25 opened Feb 28, 2023 by holtgrewe
Complete validation enhancement New feature or request
#17 opened Feb 21, 2023 by holtgrewe
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