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Implement the PVS1 for duplication CNVs #206

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gromdimon opened this issue Sep 10, 2024 · 0 comments
Open

Implement the PVS1 for duplication CNVs #206

gromdimon opened this issue Sep 10, 2024 · 0 comments
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dup enhancement New feature or request

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@gromdimon
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Is your feature request related to a problem? Please describe.
Currently we don't really implement PVS1 criteria for duplications. AutoACMG just retrieves the argument of the CLI or API and assigns the PVS1 if the flag is set to True. However, we should have a proper implementation of the rule

Describe the solution you'd like
Implement commented methods in PVS1 for structure variants. Pay attention to the required data: placement of duplicated segment!

Describe alternatives you've considered
N/A

Additional context
ACMG Guidelines - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185798/

@gromdimon gromdimon added enhancement New feature or request dup labels Sep 10, 2024
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