-
**Is your feature request related to a problem in the current program to new available techology or software? Please describe and add links/citations if appropriate.**
In the upcoming release of ba…
-
Hi,
So I recently pulled the Singularity image of PAV `2.4.2.1` which I have used in parallel on a "large" number of assemblies. All the jobs eventually failed after some time so I restarted it on …
-
The latest Gnomad version is now 4.0.0
We are running version 2.1 for exomes and genomes, and 3.1 for mitochondria.
[Link to Gnomad download page](https://gnomad.broadinstitute.org/)
-
### Description of feature
DeepTrio has had an update where it improved a lot from previous versions. Could consider adding it.
-
Given the higher accuracy of illumina short-read SNV/ indel calls compared to ONT long-reads, does longphase support phasing with short-read SNVs and long-read alignments/BAMs?
-
## Rationale
After the fusion of News to notes, we need to harmonize the analytics. Currently, there are 2 different measuring points to track the notes and news.
- Content
- Notes
With some act…
-
Hi team
Command used:
`spectre CNVCaller --coverage mosdepth/"$A".regions.bed.gz --sample-id $A --output-dir spectre2 --reference ~/beggsa-clinicalnanopore/genomes/grch38/genome.fa --metadata …
-
There are a handful of variant classifications (variable `mutationType`) that are in the MSK IMPACT samples that are not recognized by the consequence map:
frameshift_deletion | 61 (13%)
frameshif…
-
Hi,
I see how to filter a gene list for most snv/indels in issue Filter a gene list #1964.
However, I want to look at intergenic variants as well. Annovar includes other info in the Gene.refGene…
-
I've encountered an issue where Monopogen appears to process multiple samples as a single sample during germline SNV calling, despite correctly handling them as separate samples in the preprocessing s…