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Spreekt u Engels? Hope you're well friend!
I'm trying to use slivar for DeepTrio calls. They are called individually as GVCFs. I then merged them using `bcftools merge -0` and ran slivar using the …
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- [x] Being able to batch edit 'favorite' and 'classification' fields
- [x] Being able to click the 'favorite' icon instead of using context menu
- [x] Being able to select variants only from one sa…
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Hello Everybody,
Our group are currently developing a script for variant calling within a gene on Rocket. As part of such we are including a VEP section for pathogenicity prediction etc. While this …
ghost updated
3 years ago
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Currently we identify the best phenotype match for a gene for a particular mode of inheritance (MOI) using the phenotype prioritiser and then apply the OMIM prioritiser to penalise incorrect MOI match…
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Dear TADA team,
I'm having some problems with the use of the function: "predict variants"
I followed two different approaches:
A) I used data available from the folder "tests" and I ran the c…
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https://mp.weixin.qq.com/s/yqepdosnpYL45X2MFYWutA
ixxmu updated
2 years ago
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Some of the nodes have been renamed, eg the array is now:
```
"Allele Frequency": "Variant Allele Frequency filter",
"Built In Filter": "",
"EffectNode": "",
"Filter": "Filter based on column values"…
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Please set the annotation of HTT sizes to distingusih normal from "reduced penetrance" and "pathogenic".
https://scout.scilifelab.se/cust002/F0039530/str/variants?variant_type=clinical
From Gene…