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feat: seqvars effects filter #1833
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deps-report 🔍Commit scanned: 44fd935 Vulnerable dependencies4 dependencies have vulnerabilities 😱
Outdated dependencies42 outdated dependencies found (including 16 outdated major versions)😢
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// feature_truncation: 'feature truncation', | ||
// frameshift_elongation: 'frameshift elongation', | ||
frameshift_variant: 'frameshift variant', | ||
// inframe_deletion: 'inframe deletion', | ||
// inframe_insertion: 'inframe insertion', | ||
// internal_elongation: 'internal elongation', | ||
missense_variant: 'missense', | ||
// mnv: 'MNV', | ||
start_lost: 'start lost', | ||
stop_gained: 'stop gained', | ||
stop_retained_variant: 'stop retained', | ||
stop_lost: 'stop lost', | ||
// tandem_duplication: 'tandem duplication', | ||
}, | ||
'Off-Exome': { | ||
downstream_gene_variant: 'downstream', | ||
intron_variant: 'intronic (coding transcript)', | ||
// intergenic: 'intergenic', | ||
upstream_gene_variant: 'upstream', | ||
// exon_loss: 'exon loss', | ||
}, | ||
'Non-coding': { | ||
'3_prime_UTR_variant-exon_variant': "3' UTR exonic", | ||
'3_prime_UTR_variant-intron_variant': "3' UTR intronic", | ||
'5_prime_UTR_variant-exon_variant': "5' UTR exonic", | ||
'5_prime_UTR_variant-intron_variant': "5' UTR intronic", | ||
non_coding_transcript_exon_variant: 'non-coding exonic', | ||
non_coding_transcript_intron_variant: 'non-coding intronic', | ||
}, | ||
Splicing: { | ||
splice_acceptor_variant: 'splice acceptor', | ||
splice_donor_variant: 'splice donor', | ||
splice_region_variant: 'splice region', | ||
}, | ||
Structural: { | ||
// structural: 'structural ', | ||
// transcript_ablation: 'transcript ablation', |
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@holtgrewe all the commented out entries are present in the design, but missing in the API.
Most of them seem to be present here:
varfish-server/backend/seqvars/models.py
Lines 109 to 208 in 8d39e44
class SeqvarsVariantConsequenceChoice(str, Enum): | |
"""The variant consequence.""" | |
# high impact | |
# skipped chromosome_number_variation | |
# skipped exon_loss_variant | |
#: Frameshift variant | |
FRAMESHIFT_VARIANT = "frameshift_variant" | |
#: Rare amino acid variant | |
RARE_AMINO_ACID_VARIANT = "rare_amino_acid_variant" | |
#: Splice acceptor variant | |
SPLICE_ACCEPTOR_VARIANT = "splice_acceptor_variant" | |
#: Splice donor variant | |
SPLICE_DONOR_VARIANT = "splice_donor_variant" | |
#: Start lost | |
START_LOST = "start_lost" | |
#: Stop gained | |
STOP_GAINED = "stop_gained" | |
#: Stop lost | |
STOP_LOST = "stop_lost" | |
# skipped transcript_ablation | |
# moderate impact | |
# 3' UTR truncation | |
THREE_PRIME_UTR_TRUNCATION = "3_prime_UTR_truncation" | |
# 5' UTR truncation | |
FIVE_PRIME_UTR_TRUNCATION = "5_prime_UTR_truncation" | |
#: Conservative inframe deletion | |
CONSERVATIVE_INFRAME_DELETION = "conservative_inframe_deletion" | |
#: Conservative inframe insertion | |
CONSERVATIVE_INFRAME_INSERTION = "conservative_inframe_insertion" | |
#: Disruptive inframe deletion | |
DISRUPTIVE_INFRAME_DELETION = "disruptive_inframe_deletion" | |
#: Disruptive inframe insertion | |
DISRUPTIVE_INFRAME_INSERTION = "disruptive_inframe_insertion" | |
#: Missense variant | |
MISSENSE_VARIANT = "missense_variant" | |
#: skipped regulatory_region_ablation | |
#: Splice region variant | |
SPLICE_REGION_VARIANT = "splice_region_variant" | |
# skipped TFBS_ablation | |
# low impact | |
# skipped 5_prime_UTR_premature_start_codon_gain_variant | |
#: Initiator codon variant | |
INITIATOR_CODON_VARIANT = "initiator_codon_variant" | |
#: Start retained | |
START_RETAINED = "start_retained" | |
#: Stop retained variant | |
STOP_RETAINED_VARIANT = "stop_retained_variant" | |
#: Synonymous variant | |
SYNONYMOUS_VARIANT = "synonymous_variant" | |
# modifier | |
# skipped 3_prime_UTR_variant | |
# skipped 5_prime_UTR_variant | |
# skipped coding_sequence_variant | |
# skipped conserved_intergenic_variant | |
# skipped conserved_intron_variant | |
#: Downstream gene variant | |
DOWNSTREAM_GENE_VARIANT = "downstream_gene_variant" | |
# skipped exon_variant | |
# skipped feature_elongation | |
# skipped feature_truncation | |
# skipped gene_variant | |
# skipped intergenic_variant | |
#: Intron variant. | |
INTRON_VARIANT = "intron_variant" | |
# skipped mature_miRNA_variant | |
# skipped miRNA | |
# skipped NMD_transcript_variant | |
#: Non-coding transcript exon variant | |
NON_CODING_TRANSCRIPT_EXON_VARIANT = "non_coding_transcript_exon_variant" | |
#: Non-coding transcript intron variant | |
NON_CODING_TRANSCRIPT_INTRON_VARIANT = "non_coding_transcript_intron_variant" | |
#: 5' UTR variant | |
FIVE_PRIME_UTR_VARIANT = "5_prime_UTR_variant" | |
#: Coding sequence variant | |
CODING_SEQUENCE_VARIANT = "coding_sequence_variant" | |
# skipped regulatory_region_amplification | |
# skipped regulatory_region_variant | |
# skipped TF_binding_site_variant | |
# skipped TFBS_amplification | |
# skipped transcript_amplification | |
# skipped transcript_variant | |
#: Upstream gene variant | |
UPSTREAM_GENE_VARIANT = "upstream_gene_variant" | |
#: EXTRA, not directly written by Mehari: 3' UTR variant + exon variant | |
THREE_PRIME_UTR_VARIANT_EXON_VARIANT = "3_prime_UTR_variant-exon_variant" | |
#: EXTRA, not directly written by Mehari: 5' UTR variant + exon variant | |
FIVE_PRIME_UTR_VARIANT_EXON_VARIANT = "5_prime_UTR_variant-exon_variant" | |
#: EXTRA, not directly written by Mehari: 3' UTR variant + intron_variant | |
THREE_PRIME_UTR_VARIANT_INTRON_VARIANT = "3_prime_UTR_variant-intron_variant" | |
#: EXTRA, not directly written by Mehari: 5' UTR variant + intron_variant | |
FIVE_PRIME_UTR_VARIANT_INTRON_VARIANT = "5_prime_UTR_variant-intron_variant" |
Should I leave them out for now, or uncomment them on the backend side (+migrations etc.)?
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Please leave as is, this is (sadly) still work in progress.
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(wip on the server side / backend) - will fix and adjust later, possibly after our common project
Codecov ReportAll modified and coverable lines are covered by tests ✅
Additional details and impacted files@@ Coverage Diff @@
## main #1833 +/- ##
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Coverage 91% 91%
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Files 653 653
Lines 36624 36624
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Hits 33567 33567
Misses 3057 3057 |
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