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[FEATURE] Call Tandem Duplications #143

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Irallia opened this issue Jun 22, 2021 · 0 comments · Fixed by #147 or #150
Open

[FEATURE] Call Tandem Duplications #143

Irallia opened this issue Jun 22, 2021 · 0 comments · Fixed by #147 or #150
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Irallia commented Jun 22, 2021

To become as good as SVim, we need to detect (Tandem) duplications. We have to extract them from the insertions by looking at their sequences.

  1. Part: A characteristic of tandem duplications is the number of copies. We want to store this in the new variable int16_t tandem_dup_count. It is 0 if there is no duplication (e.g. insertion (novel element), deletion, inversion ...).
  2. Part: The VCF file includes some ALT lines, which are still missing.
  3. Part: Call tandem duplications via CIGAR string
  4. Part: Call tandem duplications via SA tag
@Irallia Irallia self-assigned this Aug 2, 2021
@Irallia Irallia linked a pull request Aug 4, 2021 that will close this issue
@Irallia Irallia linked a pull request Aug 11, 2021 that will close this issue
@Irallia Irallia reopened this Aug 13, 2021
@Irallia Irallia reopened this Aug 19, 2021
@Irallia Irallia added the Epic label Sep 27, 2021
@Irallia Irallia changed the title [FEATURE] Call (Tandem) Duplications [FEATURE] Call Tandem Duplications Sep 27, 2021
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