Package designed to check descriptions of sequence variants according to the Human Genome Sequence Variation Society (HGVS) guidelines.
Please see ReadTheDocs for the latest documentation.
License: MIT License
Package designed to check descriptions of sequence variants according to the Human Genome Sequence Variation Society (HGVS) guidelines.
Please see ReadTheDocs for the latest documentation.
Some tests fail.
Instead of the currently used APIs (GRCh38 and GRCh37) we could switch to Ensembl Tark.
Exon and transcript features are not extracted for XR_948219.2. Seems to be due to the gff parsing library.
Check if we can drop the biopython dependency.
Given that the current GFF parser is not really actively maintained, it may be a good idea to consider developing our own parser.
The retriever fails to retrieve assemblies annotations since the FTP location includes new directories with a different structure.
NCBI API key and email are not properly set.
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