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**Describe the bug**
[2023-11-11 04:03:11] chrY:22228260 99.9% 19m 42s 1s
[2023-11-11 04:04:05] chr5:50000000 100.0% 20m 36s …
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Currently, gene_wise simply counts variants in families, doesn't do any phasing. If we made it handle phasing as needed for comp_hets, then we could use the gene_wise machinery to drive all of the exi…
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Request to have the same feature as in MIP/SCOUT where all possibly compound variants are uploaded when looking at one variant. Including VAF-data....
![image](https://user-images.githubusercontent…
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Hi!
Is there a way to do somatic calling on multiple samples at once? I have multiple samples from different areas in a tumor of a patient. As part of a phylogenetic analysis, I would like to call th…
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With #754 we're halfway to also supporting inframe indels so we should just do the rest of the work necessary to support those types of proximal variants.
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The clinvar-ingest service will break by Start of Year 2024 based on ClinVar's recent announcement...
> Dear colleague,
>
> We anticipate changes to the ClinVar XML files and our submission spreadsh…
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In the paper it showed cnvnator in germline,but no in somatic, does this imply that canvas weaker in somatic than cnvnator, thanks, I just want to know the truth, both authors are definitely respectab…
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* allele frequency histogram should be horizontal and against the other one - lined up as a summary of the other one
* phenotype bar graph add second X axis legend and show frequency as a dot or somet…
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Hi there,
I've run FREEC on all of my tumour-normal matched samples to call somatic CNAs.
I'm wondering if there is a way to make the input for ABSOLUTE, which requires the columns "Chromosome", "S…
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I am working with large number of genomes (BAM files). I have noticed that BRASS greatly reduces its recall performance on inversions once it passes a certain "threshold" of variants. This only happen…