question about translocation of SV caller output
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3.0 years ago
9521ljh ▴ 50

if the SV caller give that:

<tra> chr:3 pos: 333223 chr:5 pos: 444332

i understand that breakpoint was in that postion.

however, Translocation need two pairs of breakpoints. why there's no other breakpoints?

why only one of breakspoints is represented?

sequencing genome • 670 views
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But I see 2 positions in your example?

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6 days ago

Short read data won't span both ends of the translocation if it is very large, so the other breakpoint may/may not be reported elsewhere. Others may sometimes be reported as insertions

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