cancervariants/variation-normalization issues and pull requests

#203 - Add mane_status, assembly information and ensembl/refseq ids to variant descriptor

Issue - State: open - Opened by MayLiu27 about 3 years ago - 3 comments
Labels: enhancement, priority:low

#196 - Consider adding assembly parameter

Issue - State: closed - Opened by korikuzma about 3 years ago - 1 comment
Labels: enhancement, priority:low

#189 - Separate out validator code

Issue - State: closed - Opened by korikuzma about 3 years ago - 1 comment
Labels: priority:high, technical debt

#188 - Add Protein Duplication

Issue - State: open - Opened by korikuzma about 3 years ago - 1 comment
Labels: enhancement, priority:medium, requirement

#187 - Add Coding DNA Duplication

Issue - State: open - Opened by korikuzma about 3 years ago - 1 comment
Labels: enhancement, priority:medium, requirement

#186 - Update amino acid and coding dna deletions

Issue - State: open - Opened by korikuzma about 3 years ago - 1 comment
Labels: enhancement, priority:medium

#177 - Add examples directory

Issue - State: open - Opened by korikuzma over 3 years ago - 1 comment
Labels: documentation, priority:low

#176 - Handle ambiguous queries in normalize endpoint

Issue - State: open - Opened by korikuzma over 3 years ago - 3 comments
Labels: enhancement, priority:low

#174 - Determine how to return MANE data with more than one mane_select

Issue - State: open - Opened by korikuzma over 3 years ago - 1 comment
Labels: question, priority:low

#169 - Support other coordinate types for ambiguous deletions

Issue - State: open - Opened by korikuzma over 3 years ago - 1 comment
Labels: enhancement, priority:medium, requirement

#165 - NC_000020.10:g.52198321C>T does not match ClinGen Allele Registry's MANE Transcript

Issue - State: open - Opened by korikuzma over 3 years ago - 3 comments
Labels: bug, priority:low

#163 - Refactor

Issue - State: open - Opened by korikuzma over 3 years ago - 1 comment
Labels: epic, technical debt

#162 - Refactor schemas

Issue - State: closed - Opened by korikuzma over 3 years ago - 1 comment
Labels: priority:high, technical debt

#158 - Refactor tests

Issue - State: closed - Opened by korikuzma over 3 years ago - 1 comment
Labels: priority:low, test

#157 - Remove match_type in Tokenizer base class

Issue - State: closed - Opened by korikuzma over 3 years ago - 1 comment
Labels: priority:high, technical debt

#149 - Add support for HGVS expressions that include a gene symbol

Issue - State: open - Opened by korikuzma over 3 years ago - 1 comment
Labels: enhancement, priority:medium

#136 - test_coding_dna_insertion failing in tests

Issue - State: open - Opened by korikuzma over 3 years ago - 3 comments
Labels: bug, test

#133 - Add VRS CisPhasedBlock

Issue - State: open - Opened by korikuzma over 3 years ago - 3 comments
Labels: enhancement, priority:low

#119 - Refactor how HGVS expressions are tokenized

Issue - State: closed - Opened by korikuzma over 3 years ago - 1 comment
Labels: priority:high, technical debt

#115 - Update documentation

Issue - State: open - Opened by korikuzma over 3 years ago - 5 comments
Labels: documentation, priority:high, requirement

#114 - Improve performance

Issue - State: open - Opened by korikuzma over 3 years ago - 3 comments
Labels: enhancement, priority:high

#111 - Add support for more insertion formats

Issue - State: open - Opened by korikuzma over 3 years ago - 1 comment
Labels: enhancement, priority:low

#110 - Allow ID for gene queries

Issue - State: open - Opened by korikuzma over 3 years ago - 3 comments
Labels: enhancement, priority:low

#108 - Support HGVS queries with both transcript and protein references

Issue - State: open - Opened by korikuzma almost 4 years ago - 1 comment
Labels: enhancement, priority:medium

#107 - Add support for protein frameshifts

Issue - State: open - Opened by korikuzma almost 4 years ago - 1 comment
Labels: enhancement, priority:high, requirement

#95 - MetaKB first pass misses

Issue - State: open - Opened by korikuzma almost 4 years ago - 2 comments
Labels: bug, priority:medium

#94 - Add Mosaicism and Chimerism

Issue - State: closed - Opened by korikuzma almost 4 years ago - 2 comments
Labels: enhancement, priority:low, stale

#93 - HGVS conversion type delins

Issue - State: open - Opened by korikuzma almost 4 years ago - 1 comment
Labels: enhancement, priority:medium

#91 - ENST versioned --> NM versioned

Issue - State: open - Opened by korikuzma almost 4 years ago - 1 comment
Labels: bug, priority:low

#90 - No Transcript Mappings for ENST00000277541

Issue - State: open - Opened by korikuzma almost 4 years ago - 1 comment
Labels: bug, priority:low

#81 - Dockerfile

Issue - State: open - Opened by bwalsh almost 4 years ago - 1 comment
Labels: enhancement, priority:low

#58 - Get GitHub Actions Tests to Pass

Issue - State: open - Opened by korikuzma almost 4 years ago - 2 comments
Labels: priority:low, test

#56 - Make our HGVS syntax checker be more generalized / non-type specific

Issue - State: closed - Opened by korikuzma almost 4 years ago - 3 comments
Labels: priority:medium

#49 - warnings field in response

Issue - State: closed - Opened by ahwagner almost 4 years ago - 1 comment
Labels: enhancement, priority:low

#46 - Add Elongated Polypeptide

Issue - State: open - Opened by korikuzma almost 4 years ago - 1 comment
Labels: enhancement, priority:low

#31 - BRCA Exchange Test Cases

Issue - State: closed - Opened by ahwagner almost 5 years ago - 2 comments
Labels: enhancement, priority:low, stale

#30 - Refseq to Genomic Discrepancy testing

Issue - State: closed - Opened by ahwagner almost 5 years ago - 2 comments
Labels: test case, priority:low, stale

#29 - Support VEP format

Issue - State: closed - Opened by ahwagner almost 5 years ago - 2 comments
Labels: enhancement, priority:low, stale

#26 - Variant builder interface

Issue - State: closed - Opened by ahwagner almost 5 years ago - 2 comments
Labels: enhancement, priority:low, stale

#15 - On variant reporting, notify improper normalization

Issue - State: closed - Opened by ahwagner about 5 years ago - 3 comments
Labels: enhancement, priority:low, stale

#1 - Parsing fusions

Issue - State: open - Opened by ahwagner over 5 years ago - 2 comments
Labels: enhancement, priority:high, requirement

GitHub / cancervariants/variation-normalization issues and pull requests