What does the breakpoint sequence mean?
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8.1 years ago
zhangz.cs ▴ 280

I'm working on the detection of SV and encounter a new concept, i.e. the breakpoint sequence. Would anyone explain it in a bit more details? It would be better to give some examples for that?

Thank you in advance!

Regards,
Zhen

sequence • 9.7k views
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8.1 years ago
rbagnall ★ 1.7k

Examples of a structural variation include a large deletion, insertion, duplication and inversion. Each requires the DNA duplex to be broken and rejoined, and this creates a new sequence of bases at the rejoined sites, i.e. the breakpoints.

Sequencing the new breakpoint regions is a good way (perhaps the only way?) to demonstrate an inversion, which does not increase or decrease the amount of DNA.

Original sequence: 123456789

Sequence with inversion: 123765489

Breakpoint sequences are at 37 and 48

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