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4. GS De Novo Assembler and GS Reference Mapper Appendices : 4.16 Types of Structural Rearrangements : 4.16.8 Fusion
4.16.8
Fusion
A fusion is detected by chimeric or Paired End reads connecting two reference chromosomes or two genes. The output file provides the reference, position and gene name at each side of the connection.
Example output:
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FUSION
subjAccno1     subjPos1     RegionName1     subjAccno2     subjPos2     RegionName2    Confidence
     chr9     20350776     MLL     chr11     117859950     MLLT3     High
 
Consensus: chr9                   20350740+ 
CTGGTTGTTGTTGGTTTTTAGTAAGGGTGGTGGAGGTTCGTGATGTAGGGGTGAAGAAGCAGAACTG 20350806
                                    *
# supporting shotgun reads, pos 20350776: 7
# non-supporting shotgun reads, pos 20350776: 30
 
Consensus: chr11                 117859918+ 
CTGTATTGCAGCCTAGGCAACAAAGCAAGACCCAGTCTCTTTTAAAAAAAAATTCAAAG 117859976
                                *
 
# supporting shotgun reads, pos 117859950: 8
# non-supporting shotgun reads, pos 117859950: 26
 
 
Individual Variation IDs: 23, 24
 
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