-
When I submitted a mutation:
NM_001164277:c.925_928delinsTC
to Transvar
with these options:
Reverse annotation cDNA, GRCh37, RefSeq
I got "p.G309Sfs*3" and "chr11:g.118896734_118896737d…
-
Whole-genome sequencing of S. paradoxus mutation accumulation lines
DNA extracted using Zymo YeaSTAR Genomic DNA kit
Libraries prepped using homemade protocol (no kit, can find out more info if ne…
-
Hi ~
I'm using Battenberg on my tumor WGS data and have encountered some issues with certain samples. For example, in the **sample.BattenbergProfile_average.png (A)** and **sample_copynumberprofile.p…
-
Hi, I just report problematic named entities I found using `en_core_sci_sm`, to improve the model. Most of them contain unbalanced brackets.
```
(-2)-0-(+2
(-8
(= control values
(= controls
(=…
-
Hi,
I greatly appreciate this amazing tool. I am currently attempting allele prediction using the `-o2` option. I am curious about how this tool predicts alleles and how to interpret the output.
…
-
IGV v. 2.17.4 on Mac
See the mismatched base in one of the reads here:
The mismatched base is not showing up even though 'show mismatched bases' is selected:
![Screenshot 2024-05-04 at 3 59 1…
gevro updated
3 months ago
-
Hi,
As we continue to test out `somalier` for QC on our long reads data (currently for sex check), we are seeing something a bit strange.
The sample we ran this on has an estimated coverage of 1…
-
Hi Chase -
I have performed the within-pool using the vcf report as input. Now I have several output and I am trying to understand (after reading your papers and references reported in the README.md)…
-
Hello,
Thanks for this fast and useful germline calling tool. When I used DeepVariant 1.6.0 for single sample WES germline calling, I found that some real germline mutations with VAF (variant allele …
-
Hi there,
Thanks for developing such an amazing toolbox.
When I run the hlmm with simply linear model, rather than linear mixed model, I found there were lots of nan in the resulting file, like th…
zqsha updated
2 years ago