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The HGVS nomenclature now recommends including both a sequence and transcript identifier for some variants, with the transcript identifier in parentheses e.g.: https://hgvs-nomenclature.org/stable/rec…
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e.g. with:
```
11 67257556
rs2276020 C
T 4487.16
PASS "AC=1;AF=0.038;AN=26;BaseQRankSum=-1.646e+00;ClippingRankSum=-3.510e-01;DB;DP=1531;FS=0.790;GQ_MEAN=432.85;GQ_STDDEV=1229.37;InbreedingCoeff=-0.0…
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Currently `/hgvs_to_copy_number_count` returns ``"copy_number_count mode requires `baseline_copies`"`` if the `baseline_copies` param is set to `0`.
`/hgvs_to_copy_number_count` supports deletions …
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**Is your feature request related to a problem? Please describe.**
A number of HGVS nucleotide descriptions are not described well. For example, repeat expansion descriptions (cf. #490). We shoul…
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A CCB researcher emailed about how 17:7574012 G>A has HGVS of ENST00000269305.4:c.1015G>T
As it's -'ve strand you'd think given the ref G would be complement C ie HGVS should be ENST00000269305.4:c.…
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* Generate 100/1k/10k random HGVS from ClinVar
* Install SeqRepo locally
* Benchmark how long it takes with JSON and REST client - check out caching/non caching etc
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Search for "ENST00000642385.2:c.802G>T" comes up wtih:
Search comes up with:
```
Could not convert ENST00000642385.2:c.802G>T - tried:
CLINGEN_ALLELE_REGISTRY
CLINGEN_ALLELE_REGISTRY as ENST00000642…
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I presume the following issue also affects LOVD:
mutalyzer/mutalyzer#425
I have seen code within LOVD that especially accounts for the `m.` notation for mitochondria. The full extent of changes …
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When trying to parse the following, and validating I receive the attribute error:
NP_001087241.1:p.K550_E554del
https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=152038808
`val='NP_0010…