xjtu-omics / SVision

Detecting genome structural variants with deep learning in single molecule sequencing
GNU General Public License v3.0
100 stars 10 forks source link

SV description #12

Open bo8883 opened 1 year ago

bo8883 commented 1 year ago

From Table S9 of Nature Methods publication of SVision (Lin et al, 2022)

Is this the correct interpretation of complex SV description. The interval between Start and End is replaced by the INFO under the SVisionBKPS column

Chrom Start End VariantID GraphID SVisionBKPS chr12 80,452,280 80,464,114 15364 23 INV:1751-80455701-80457461,DUP:1751-80455701-80457461

chr12:90452280-80464114 interval is REPLACED BY this sequence ( inversion of chr12: 80455701-80457461 and duplication of chr12:80455701-80457461)

Thanks,

Bo


Your description of this CSV is correct.

Best, Jiadong

jiadong324 commented 1 year ago

@bo8883 Thanks for posting your question again at here. It would be very helpful to other users!

Related question and answers are here https://github.com/xjtu-omics/SVision/issues/11.