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CNVkit is a best python package to infer copy number information from high-throughput sequencing data
Actually, We are very excited to find that you have provided new function within the software pac…
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We would like to test the ability of annotation tools to correctly assign the gene/allele of origin in difficult cases. One idea might be to use AIRRseq data from an individual who has previously been…
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Let's use this issue to track example papers to use as references in class. Ideally this will include:
- authors from the FH community
- exhibit reproducible methods
- different model systems (huma…
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When some long genes have what looks to be sequencing error, Genotate correctly find the short regions, but then it moves the end of that region to a stop-codon, which adds a bunch of noncoding bases …
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**Software versions**
Specify what versions of the following you are using:
- `HTSeq: 0.12.4`
- `Python: 3.8.16`
- Linux
- `pbmm2: 1.13.1`
- `GenomicFeatures: 1.50.4`
**Question**
Dear h…
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I'm working on a project that uses targetted HiFi sequencing of pharmacogenetic genes to deliver personalised advice regarding medicine dosage to patients. I am trying to use HiFiasm to do a phased as…
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### Report
hi, I have encounter issues with the estimation of CGC substrate abundance and CGC abundance.
I followed all the steps from the manual and it ran smoothly, including dbcan_utils fam_abu…
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Hi,
I am facing an issue with the burden test where the genotype goes to -nan or nan:
```
-reading in genotypes, computing gene-based tests and building masks...ERROR: Throw location unkno…
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Intergenic mutations may affect protein expression (e.g. mutations in RBS or promoters), but there isn't information available for upstream/downstream genes. I though that snpEFF let us do this in the…