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Old 01-20-2014, 10:41 PM   #1
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Location: Hong Kong

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Default exome sequencing can detect fusion genes?

This research says it did. Is it because the junction point lies with exons of both genes?
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Old 01-21-2014, 12:37 AM   #2
Devon Ryan
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Sure, you can still pick up chromosomal and other structural rearrangements with exome sequencing, just not 100% of the time. You're correct that the reason this worked was due to the genes rearranging and effectively merging in the genome. Because of that, the capture kit still got reads that mapped to the end of one or the other of the genes (with the remainder mappable to the other gene).

This would be in contrast to detecting fusion transcripts arising from neighboring genes being coexpressed and spliced together. Those sorts of situations wouldn't be detectable with exome sequencing.
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Old 01-22-2014, 01:03 AM   #3
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The answer is that it depends on:
- where fusion junction point lies (it is "well" inside an exon which should be 'captured' properly and both genes involved in fusion should captured properly),
- coverage of sequencing

Whole genome sequencing and RNA-seq are ones of the most used for finding fusion genes and/or translocations.
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Old 12-18-2014, 10:11 PM   #4
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Originally Posted by ymc View Post

This research says it did. Is it because the junction point lies with exons of both genes?
Have you detected fusions using Exome tumor data?
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Old 04-08-2016, 05:35 AM   #5
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For anyone interested: They used dRanger (not publicly available) and Breakpointer in order to detect the fusion from exome data.
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