-
Hi @lrauschning,
when I run `msyd call` in `--core` mode on some potato haplotypes, I get a nice PFF file of the coresyn regions and a merged VCF for the same coresyn. The SNPs and indels which do …
-
I would like some confirmation on the definition of SVLEN when used with different representations of specific variants. I used Tandem Repeats as an example but that could be applicable to others.
…
-
Hi,
I want to ask about the input read count value? Should I simply give the raw allele-specific read count? Or should I normalize (for library size differences) the raw count by myself and then ru…
ghost updated
3 years ago
-
Add an option to filter by genomic position or specific variants instead of gene names. This will enhance the flexibility of the script, allowing users to target specific regions or variants more prec…
-
I have a large scale dataset of WXS .g.vcfs , I do not have the original FASTA files. I would like to genotype these .g.vcfs into vcfs. These vcfs will be used in downstream applications. The issue is…
-
**[Original report](https://bitbucket.org/whatshap/whatshap/issue/169) by Irantzu A (Bitbucket: [iraun](https://bitbucket.org/iraun), ).**
----------------------------------------
Is it possible to …
-
Hello!
I was wondering How I can answer this question from either PhylogicNDT out or ABSOLUTE output:
For a particular mutation, what is the mutant allele copy number and what is the total copy …
-
We need to develop a robust and scalable data ingest/ETL (Extract, Transform, Load) pipeline to facilitate the reading of eQTL (expression Quantitative Trait Loci) data from FTP sources, indexing it i…
-
We should document variants in certain genes that shouldn't be set to reference (if missing, as opposed to actually reference):
* CYP3A5
* CYP2C19
* UGT1A1
-
**Is your feature request related to a problem? Please describe.**
We need consistent error codes for all errors and warnings so other tools can searh for them without error messages breaking flow.
…