friend1ws / nanomonsv

SV detection tool for nanopore sequence reads
GNU General Public License v3.0
78 stars 12 forks source link

the use of CHM13 reference for SV detection #64

Open charliechen912ilovbash opened 3 months ago

charliechen912ilovbash commented 3 months ago

Hello, ・Can I use CHM13 reference for SV detection with NanomonSV v0.7.0, especially in the repeat rich (e.g. LINE1) rich region. ・Do you have any test data, comparing running NanomonSV at hg38 and chm13 (of the same sample) ?

friend1ws commented 3 months ago

Hi,

Can I use CHM13 reference for SV detection with NanomonSV v0.7.0, especially in the repeat rich (e.g. LINE1) rich region. It seems that nanomonsv v.0.7.0 and v0.7.1 had an issue that some SVs in repeat regions could not be properly detected. We amened this problem in the new release (v0.7.2). So please try.

Do you have any test data, comparing running NanomonSV at hg38 and chm13 (of the same sample) ? We would like to provide test data for CHM13.

charliechen912ilovbash commented 3 months ago

Thank you! Looking forward to the test result!

charliechen912ilovbash commented 2 months ago

Where will be test result be shared?