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Hi,
I have vcf files and fastq files for 80 samples. I firstly construct a vg graph with the 80 vcf files. Secondly I map the fastq to the vg graph. Thirdly, I call variants with the 80 samples. But …
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**Have you checked the [list of proposed rules](https://github.com/Benjamin-Lee/deep-rules/issues?q=is%3Aissue+is%3Aopen+label%3Arule) to see if the rule has already been proposed?**
- [x] Yes
…
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Hi,
I have been using the very useful package moimix lately, but I was running into the issue below using alleleCounts, which could be helpful to report.
Here was the error message I got from a…
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Hi, I want to use syri to detect SVs and I do some experiment to test the accuracy of the Software . When test INS and DEL , it works wonderful ,but when test inversion , I some problems , maybe here …
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I am new to wfmash (but of course have plenty of alignment experience).
I tried an experiment in which I generated a random genome and a second with rearrangements (including random reversals) of i…
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Hi all again,
cc: @ThomasDesvignes @mhalushka @mlhack @keilbeck @BastianFromm @ivlachos @TJU-CMC
Finally discussing naming proposals. Feel free to adapt the issue to ask more questions or clarif…
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Hi,
I am new to HaplotyperCaller. I have a reference genome and genome re-sequencing data for 80 individuals from 7 populations. Among the 7 populations, a special one (named "Mali") has re-seq…
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We need to work out how to manage somatic classifications.
Eg How is it different from current germline ACMG in terms of scoring and evidence keys?
Dumping out notes here:
### Comment 1 ###
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# Notes on data
## Storage
* UKB PPP data is fully mirrored in the Gentropy Vault.
* For each study we have one TAR file which contains per-chromosome gzipped tabular files. Because of that, some…
tskir updated
2 months ago