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Hi, I don't know how to best communicate it, but FWIW, I made a caching wrapper for SpliceAI.
https://github.com/bihealth/spliceai-wrapper
I'm looking forward to the announced precomputed scores…
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not present in local database but AF 99% in gnomAD? Rank score 15. Can you check this variant? Something seems off.
Kind regards,
Bianca
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Hi @sigven ,
Thank for your cpsr and pcgr software. I have used pcgr for a while and I love it. I tried cpsr today and successfully tested the example ```vcf``` file. When I tried to use my own dat…
jxshi updated
5 years ago
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@gkos-bio commented on [Wed Feb 08 2017](https://github.com/opentargets/data_pipeline/issues/75)
none of the C9orf72 clinvar reports (https://www.ncbi.nlm.nih.gov/clinvar/?term=C9orf72%5Bgene%5D) sho…
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Hi,
I have a question regarding bcftools norm ( bcftools norm Left-align and normalize indels; check if REF alleles match the reference; split multiallelic sites into multiple rows; recover multial…
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Hello,
I was running bcbio v1.1.0 on a set of ~90 samples and I noticed 3 of those samples failed at the same step (**vcf2db**) with the same exact error. Upon further inspection I noticed that thi…
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The explanation should be different for the case where we find variants but none of them are pathogenic. The message should be No predicted pathogenic variants found in disease-associated gene SYMBOL.
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This relates to my pull request from last week: https://github.com/Clinical-Genomics/scout/pull/1324
Currently "real" ACMG classifications are stored in the acmg collections, whereas "quick" classi…
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Hey,
Does the vcffilter work on string data types? I couldn't get to work but my syntax could have been wrong. If not, it would be a most definitely appreciated feature.
i.e.
```
##INFO=
```
Dar…
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Suggested improvements for the STR layout:
- [x] The link to IGV viewer "button" has lost its boundaries, square
- [x] sort the calls by gene-name or numerically by Chr. and Position. (put the IGV-b…