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Announcing cdot: a data provider to load lots of transcripts fast
resurrected
#634
opened Feb 3, 2022 by
davmlaw
FLT3 Large Insertion Generating Incorrect HGVS_P
bug
Something isn't working
#482
opened Feb 27, 2018 by
akeeeshi
make data provider dependencies optional
keep alive
exempt issue from staleness checks
#199
opened Jul 19, 2014 by
reece
How to apply a protein change to a given amino acid sequence to produce a mutant amino acid sequence
keep alive
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#641
opened Jun 24, 2022 by
nh13
In-frame del at the end of a transcript throws Index Error
bug
Something isn't working
#529
opened Oct 22, 2018 by
sptaylor
Ambiguous genome-transcript alignments cause ambiguous variant projections
keep alive
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#514
opened Aug 23, 2018 by
reece
mitochondria (m.) assembly mapping
keep alive
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#663
opened Jul 5, 2023 by
davmlaw
Index Error for variant using am37.c_to_g()
bug
Something isn't working
#606
opened Jul 30, 2020 by
sptaylor
support uncertain ranges
enhancement
New feature or request
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#225
opened Apr 22, 2015 by
reece
Consider exposing a utility for converting between g. variants by leveraging pyliftover
enhancement
New feature or request
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#711
opened Nov 17, 2023 by
mihaitodor
Inconsistencies across intron/exon boundaries
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#655
opened May 23, 2023 by
cassiemk
Provide utility to generate transcript variants from HGVS-ish expressions with gene names
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#517
opened Aug 27, 2018 by
reece
untangle lru_cache and persistent cache
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#450
opened Jun 26, 2017 by
reece
Validation - refactor to be able to retrieve all errors rather than throw exception on 1st
enhancement
New feature or request
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#706
opened Oct 9, 2023 by
davmlaw
Make data provider config explicit
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#645
opened Nov 12, 2022 by
reece
require points or ranges as appropriate for edit type
keep alive
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#279
opened Sep 23, 2015 by
reece
Normalizer.normalize()
is performing sequence position validation which cannot be skipped
keep alive
#705
opened Oct 9, 2023 by
mihaitodor
Normalizer constructor doesn't pass the exempt issue from staleness checks
validate
param to the VariantMapper constructor
keep alive
#704
opened Oct 7, 2023 by
mihaitodor
Exon boundary / intron validation - need for genome build specific validation?
data provider schema change
enhancement
New feature or request
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#700
opened Sep 28, 2023 by
davmlaw
Update / modernize packaging
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#691
opened Sep 14, 2023 by
reece
Support for circular genomic identifiers
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#650
opened Apr 3, 2023 by
mbiokyle29
Support transcript variants with specification of underlying genomic reference
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#642
opened Sep 30, 2022 by
reece
move SequenceVariant.fill_ref() to separate module
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#593
opened Mar 25, 2020 by
reece
RFC: Develop plan to replace Parsley
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#505
opened Jul 25, 2018 by
reece
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