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via @hguturu
> re: the other discussion on min-candidate-spanning-count
> Possibility of feature add of applying it at the sample level rather than at the cohort level? Since before the multiple inp…
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I've been running a large number of ~ 30X human CRAMs (aligned to GRCh38DH) through Manta for germline SV detection. I've typically been providing 16GB of RAM and 8 cores. For the majority of samples,…
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Output of `segmentrics` resulted in a call with `start` > `end` (`cnvkit==0.9.9`):
Command:
`cnvkit.py segmetrics -s -o --ci --bootstrap 100`
Result:
```
chromosome start end ge…
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Dear author,
I do not know how to find UpdateEnvironmentMono ?can you help me?
how to run these two steps
![image](https://user-images.githubusercontent.com/25199946/48173213-bb51a380-e33d-11e8-8a6…
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Starting a new ticket specifically dedicated to the question of whether to lump or split representation of Variant Pathogenicity and Variant Oncogenicity Statement types.
This discussion was start…
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Hi
I'm running linkedSV on two of linked-read WGS. One has a tandem duplication, the other a known translocation.
This is my command:
linkedsv.py -i sample.phased_possorted_bam.bam -d path -r path/…
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The joint caller should optionally output a csv file that gives for pairs A, B of variants (both germline and somatic) at each sample:
- total number of fragments (i.e. reads or mates of reads) overla…
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I get a `No snps found in normal!` error when I attempt to run Hatchet2 using `reference_version=hg38`. Reference fasta files are hg38. Interestingly, when I run the relevant `bcftools` commands from …
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See #126, but for SVs. This is in addition to filtering against gnomAD.