Requesting Insights on Potential Complex Structural Event Indicated by IGV
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27 days ago
pragnapcu • 0

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Hello everyone, I have come across some intriguing IGV patterns that suggest a complex structural event. Here's a summary of the key observations:

  1. The coverage track shows a region that appears duplicated (noted by a red highlight), indicating exon duplications.
  2. The flanking regions of these exons exhibit soft clipping, with multiple mismatched alignments over the reads. This mismatched region aligns perfectly with the intronic region of another gene on the same chromosome.
  3. Also, the mates of some reads are mapped to the same intronic region of a different gene on the same chromosome, which may suggest a long-range effect or translocation event (indicated by 2 marked in red).
  4. Please note the distantly mapped read pairs, as indicated by 1 marked in red. I'm considering the possibility of a complex structural event. Does anyone have experience with such patterns or can offer insights into potential mechanisms at play here?
Manta IGV variant translocation structural • 160 views
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