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Using data:
https://s3.amazonaws.com/iobio/samples/test_files/Horizon-HD728_Panel1385_Hyb11_HFW2KBBXX.union.vcf.gz
https://s3.amazonaws.com/iobio/samples/test_files/Horizon-HD728_Panel1385_Hyb11_HFW…
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Do you happen to have the genome coordinates (and genome build) for the LQTS benign and pathogenic variants you used? Currently all that is reported in Table S1 is a partial HGVS description of the c…
arq5x updated
7 years ago
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This was as generated by releaseDiff.py. I wouldn't expect to see allele information lost for any ENIGMA variants, so this looks like a pipeline bug.
Allele_origin_ENIGMA variant chr17:43100558:GTA>…
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Found this in VarInterp274, looks like a mistake to me
```
"condition": [
{
"cg:id": "-"
}
],
```
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Is there a reason why a variant that is in the VCF file and in the *multiannot.txt would not be in the report.txt output? Could it be differences between annotating with Ensembl versus Refseq?
Tha…
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Here are some examples, from releaseDiff.py
Clinical_classification_BIC variant chr17:43074347:CAAGT>C major change: Class 5 -
Clinical_classification_BIC variant chr17:43074427:C>T major change: - P…
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Currently we use `Positive` and `Negative` for `Clinical Significance` values but it would make more sense to use the nomenclature from the ACMG guidelines for `Predictive` evidence:
https://www.ac…
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Hello,
I noticed that when filtering with a regex, the regex is always case-insensitive even when I'm not using the `/i` option. For example, if I'm trying to count the number of "Pathogenic" varia…
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Name: amyloid-beta complex
Def: Protein complex involved in modulation of signaling and synaptic function in the brain, predominantly in the cerebral cortex and hippocampus. Forms dimers and multim…