Reece Hart
Reece Hart
Documented in code [here](https://github.com/ga4gh/vrs-python/blob/4978e88396c8a718576ade805c8b1332b7108496/src/ga4gh/core/_internal/identifiers.py#L134) and implemented [here](https://github.com/ga4gh/vrs-python/blob/4978e88396c8a718576ade805c8b1332b7108496/src/ga4gh/core/_internal/identifiers.py#L183) However, you're right that it appears to be missing from the docs.
This issue touches on several problems: * The Ensembl data are extremely old. * At the time of last loading, Ensembl didn't expose transcript versions. They eventually did so. *...
Yes, those should be usable in principle, but no work has actually gone into that yet.
I think there are two separable issues here. 1) I agree with @rrfreimuth that asserting reference is approximately the same thing as negating the existence of wildcard variation. Asserting reference...
"Negative Variants" is opaque. Can we call this issue something else? How about "Non-specific variation"?
This problem is actually somewhat deeper. The problem is that the iterators that worked with Python 2 don't work with Python 3. The changes themselves are fairly simple, but I...
If you're running a new container, the first operation is to download data and load into the postgresql instance. That takes about 3 minutes on my fast laptop with an...
_Original comment on Bitbucket by_ **Reece Hart (Bitbucket: [reece](http://bitbucket.org/reece), GitHub: [reece](http://github.com/reece))**: --- This issue affects 146 distinct transcripts in 81 genes: ``` reece@[local]/uta_dev=> select distinct T.hgnc, count(distinct tx_ac) as n_transcripts,...
Another example: RSPO1. From NCBI's alignment files: ``` snafu$ zgrep NM_001038633.3 src/refseq/H_sapiens/alignments/GCF_000001405.25_knownrefseq_alignments.gff3 | expand -t8 | cut -c1-80,137- | cut -d';' -f1 NC_000001.10 RefSeq cDNA_match 38100238 38100595 358 Target=NM_001038633.3 1...
https://www.ncbi.nlm.nih.gov/nuccore/380748962 ``` exon 1031..1304 /gene="SHANK3" /gene_synonym="DEL22q13.3; PROSAP2; PSAP2; SCZD15; SPANK-2" /inference="alignment:Splign:1.39.8" exon 1305..1498 /gene="SHANK3" /gene_synonym="DEL22q13.3; PROSAP2; PSAP2; SCZD15; SPANK-2" /inference="alignment:Splign:1.39.8" exon 1499..1612 /gene="SHANK3" /gene_synonym="DEL22q13.3; PROSAP2; PSAP2; SCZD15; SPANK-2" /inference="alignment:Splign:1.39.8" ```...