asaki1986

can not find/display variants which observed in IGV

2

Hi, Thanks for providing mutscan, which is fast enough to generally find the mutations. However, I find it hard to display the variants that are already observed in IGV, mapped...

Hi, Thanks for providing the TitanCNA tool to evaluate the CNV status of samples. However, I am quite confusing about the output of the titan result, especially the copy number...

MMR mutations and MSI status

1

Hi, MSISensor-pro did provide a large convenience to determine the MSI status for tumor-only samples by building the baseline of PON. According to our knowledge, pathogenic mutations in MMR gene,...

why genomewide CNV is not so "normalized" as in reference

1

Hi, I am using ichorCNA to process the 1x WGS data for miscarriage samples. Using data from normal samples as reference, we tend to estimate the CNV status of the...

omim update failed

3

Hi, I am using omim to fetch the data and annotate the genes. Errors were found when update was applied. `[2022-10-19 22:50:40 OMIM-CLI main DEBUG MainThread:43] dealing with: [88/27982] 102730...

Hi all, We recently found a EGFR-CTNNA2 fusion in a sarcoma FFPE sample, both in DNA and RNA samples. For DNA, we used delly, while STAR-Fusion for RNA data. In...

how to determine the status of MSI, as snapshot method using tumor/normal samples

2

Hi, I am very interesting in your VisualMSI tool, since it is quite simple to use and very fast to find the microsatellites. However, I am confusing how to determine...

BCL2 fusion not catched?

8

Hi all, I am using JAFFA-2.4 to discover the BCL2 fusions in FFPE target RNA sequencing data. While this sample had been verified positive using FISH, with partener gene IGHJ,...