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Is there a way to get the CDS structure for a given transcript?
#750
opened Nov 20, 2024 by
wlymanambry
Dataprovider - get canonical / MANE transcript
enhancement
New feature or request
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#747
opened Aug 5, 2024 by
davmlaw
Context view improvements
enhancement
New feature or request
#741
opened Jun 10, 2024 by
andreasprlic
Global configuration item not always being used
bug
Something isn't working
#736
opened Apr 12, 2024 by
wlymanambry
Support transcript identifiers (in parentheses) in variants
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#735
opened Apr 10, 2024 by
marius-mather
CDS phase (frame offset for eg ribo slippage) not taken into account in amino acid translation
bug
Something isn't working
data provider schema change
#732
opened Mar 13, 2024 by
davmlaw
Modify parser to include common errors to provide better error messages than "syntax error"
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#720
opened Jan 25, 2024 by
davmlaw
c_to_p at intron/exon boundary where splice region is preserved
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#714
opened Dec 19, 2023 by
b0d0nne11
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
How to properly handle selenoproteins
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#710
opened Nov 10, 2023 by
holtgrewe
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
Normalizer.normalize()
is performing sequence position validation which cannot be skipped
keep alive
#705
opened Oct 9, 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
mitochondria (m.) assembly mapping
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#663
opened Jul 5, 2023 by
davmlaw
Inconsistencies across intron/exon boundaries
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#655
opened May 23, 2023 by
cassiemk
Support for circular genomic identifiers
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#650
opened Apr 3, 2023 by
mbiokyle29
Make data provider config explicit
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#645
opened Nov 12, 2022 by
reece
Support transcript variants with specification of underlying genomic reference
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#642
opened Sep 30, 2022 by
reece
How to apply a protein change to a given amino acid sequence to produce a mutant amino acid sequence
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#641
opened Jun 24, 2022 by
nh13
Index Error for variant using am37.c_to_g()
bug
Something isn't working
#606
opened Jul 30, 2020 by
sptaylor
Support for wildcards lost in the newer versions of hgvs?
bug
Something isn't working
#595
opened Apr 9, 2020 by
melissacline
move SequenceVariant.fill_ref() to separate module
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#593
opened Mar 25, 2020 by
reece
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