-
Setup a local AnyVar instance and load it with ClinVar variants for a complete release.
This will be useful for building the data need for generating the VA data for clinvar and sharing with folks at…
-
Related to #35.
In order to include only conflicting variants where at least one submission is pathogenic / likely pathogenic, the individual submissions data is needed. That is not present in the …
-
## Describe the issue
VEP performed incorrect pHGVS annotation for the variant `NM_173660.5:c.1124_1127dup (rs606231128)` .
VEP annotated the variant as `NP_775931.3:p.Ala377ProfsTer31` when the cor…
-
See the list here: https://www.ncbi.nlm.nih.gov/clinvar/submitters/505999/
This may require coordination with UDP/UDN and/or medGen.
-
Hello,
Was accessing the data up until a yesterday, but now it appears to be missing from the s3://aws-roda-hcls-datalake/clinvar_summary_variants/
Will this data re-appear sometime?
-
see here: ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/vcf_2.0/
visze updated
7 years ago
-
## Describe the issue
If two custom annotations with the same name are provided, vep will annotate the VCF using first custom annotation and ignore the second annotation source. Expectation was an er…
-
Trying to extract a vcf out of an annotated file (single sample). The number of entries is smaller than the ones in gui (excel, tsv are correct).
This is true when reports are obtained from gui as w…
-
Please look at the following column and output to determine what they are?
ClinVar_ASSEMBLY | ClinVar_HGMD_ID | ClinVar_SYM | ClinVar_TYPE | ClinVar_rs
If the output of oncotator from above doesn'…
-