Question: Question about analyzing structural rearrangements with detailed annotation.
gravatar for mangfu100
5.3 years ago by
Korea, Republic Of
mangfu100720 wrote:


I have been focusing on structural rearrangements instead of SNPs or CNVs due to its effects on development of tumors and I selected several tools to detect structural rearrangements such as large insertions and deletion, inversion and translocations.

I had a handful of variants that is expected to be related to tumor developments (Actually my cancer sequencing data is specialized in specific sub-type cancer).

However, there is nothing to do even though I had a reliable structural variants. I want to need further analyzing my variants to get clinical information. I thought that there are many databases of SNPs and INDELs such as dbSNP and COSMIC but in contrast I can't see the specifically aimed databases of structural rearrangements.


Does anybody have their own process of analyzing structural rearrangements or know the databases which is specially aimed at rearrangements reports?



sequencing next-gen genome • 1.3k views
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