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Hi, i am using the following command for mity INDELS finding using ONT generated data, which has been aligned by minimap2 aligner. Here i am using a single BAM file as a input. i am a bit confuse to t…
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**Is your feature request related to a problem? Please describe.**
We need to update the constraint metrics display for mt variants. Ben has completed the pipeline work #561 - https://github.com/broad…
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As part of the Variant Page effort, we have discussed to start developing the first two widgets (sample data has been shared on slack):
- [x] ClinVar
```
{
"alleleOrigins": [
"germli…
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Hi,
I've been using exomiser to analyse WGS data for a long time, and it's the first time I notice this behaviour:
with some HPO IDs (in particular HP:0002597 and/or HP:0001626) I get 0 passed varia…
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Hi,
I have a only pooled.bam, barcode and a vcf file which doesn't have mitochondrial variants. How can I run this in my situation?
best
iman
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This Issue exists as a meta-issue to coordinate both bug reports and feature requests associated with our friends at LOVD, i.e. mostly @ifokkema :-)
- [ ] Tools for handling variants with positions…
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Hello, My config contains the following lines:
```
GENETIC_CODE_TABLE=1
GENETIC_CODE_TABLENAME=Standard
MITO_GENETIC_CODE_TABLE=2
MITO_GENETIC_CODE_TABLENAME=Vertebrate Mitochondrial
PARENT_DI…
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When a variant is mitochondrial , do not return the current predictors tables in the variant-type tab, but instead produce a table with the following predictors:
APOGEE (for protein-coding variants…
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Hi. I am using VarTrix on the mitochondrial genome and I use all possible variants.
When I check the ref_matrix_coverage.mtx results, the reference reads are different.
For example:
The three …
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Hi, really appretiate the tool to do lineage determination with mitochondrial variants. I've been running lineage with 8 cores, and I noticed that it nearly consumes 100G ram per thread, and it's been…