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I used delly and sansa to build a structural variation analysis pipeline and attempted to evaluate its accuracy through NCCL validation data.
Delly detected the expected mutation. But I'm a bit surprised why there is a 1 bp difference in the representation of breakpoints.
answer:
the sansa result:
example the INV00002766,On the IGV image, it can be seen that soft splicing occurs on chromosome 7
between 55266405 and 55266406;
between 92462404 and 92462405
Perhaps it should be said that this is just a small descriptive questions of delly?I am quite concerned about whether there is a conversion between 1base and 0base?I understand that when annotating snv/indel, there is a requirement to annotate according to the 3 'rule of the transcript,Is there a similar requirement in structural variation?
This BND00012515 is particularly confusing for me, as the breakpoint seems to be "chr22 between 23632659-23632661" and "chr9 between 133729450-133729452",Why choose the current breakpoint?
The text was updated successfully, but these errors were encountered:
I used delly and sansa to build a structural variation analysis pipeline and attempted to evaluate its accuracy through NCCL validation data.
Delly detected the expected mutation. But I'm a bit surprised why there is a 1 bp difference in the representation of breakpoints.
answer:
the sansa result:
in delly.bcf
example the INV00002766,On the IGV image, it can be seen that soft splicing occurs on chromosome 7
between 55266405 and 55266406;
between 92462404 and 92462405
Perhaps it should be said that this is just a small descriptive questions of delly?I am quite concerned about whether there is a conversion between 1base and 0base?I understand that when annotating snv/indel, there is a requirement to annotate according to the 3 'rule of the transcript,Is there a similar requirement in structural variation?
This BND00012515 is particularly confusing for me, as the breakpoint seems to be "chr22 between 23632659-23632661" and "chr9 between 133729450-133729452",Why choose the current breakpoint?
The text was updated successfully, but these errors were encountered: