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Refine meaning of "genomic material" #14

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holtgrewe opened this issue Nov 14, 2023 · 1 comment · Fixed by #18
Closed

Refine meaning of "genomic material" #14

holtgrewe opened this issue Nov 14, 2023 · 1 comment · Fixed by #18
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enhancement New feature or request

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@holtgrewe
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Is your feature request related to a problem? Please describe.
Our interpretation of DEL was "any sequence" so far, but reading the DUP rules, this appears wrong. What is meant is here functional content, such as regulatory elements and genes.

Describe the solution you'd like
Review this interpretation and adjust rules.

Describe alternatives you've considered
N/A

Additional context
N/A
@holtgrewe holtgrewe added the enhancement New feature or request label Nov 14, 2023
holtgrewe added a commit that referenced this issue Nov 19, 2023
@holtgrewe
feat: add support for functional elements (#14)
d40f207
holtgrewe added a commit that referenced this issue Nov 19, 2023
@holtgrewe
feat: add support for functional elements (#14)
d5dd39e
@holtgrewe holtgrewe linked a pull request Nov 19, 2023 that will close this issue
feat: add support for functional elements (#14) #18
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@holtgrewe
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Relevant sections are:

Loss / Deletion

  • 1A/1B
  • Section 4 but we don't automate this (yet)

Gain Duplication

  • 1A/1B
  • 2C
  • Section 4 but we don't automate this (yet)

holtgrewe added a commit that referenced this issue Nov 19, 2023
@holtgrewe
feat: add support for functional elements (#14) (#18)
449d939
@holtgrewe holtgrewe mentioned this issue Nov 20, 2023
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feat: add support for functional elements (#14) varfish-org/scarus
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@holtgrewe