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enable use of the ACMG classification tool with GRCh38 variants #619

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sczakihl opened this issue Apr 7, 2024 · 0 comments
Open

enable use of the ACMG classification tool with GRCh38 variants #619

sczakihl opened this issue Apr 7, 2024 · 0 comments
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enhancement New feature or request

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@sczakihl
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sczakihl commented Apr 7, 2024

Is your feature request related to a problem? Please describe.
current semi-automated ACMG prediction by InterVar does not support GRCh38 variants.

Describe the solution you'd like
allow for GRCh38 variants in the novel alternative service specifically for the automatic computation of ACMG criteria,

Describe alternatives you've considered
N/A

Additional context
N/A

@sczakihl sczakihl added the enhancement New feature or request label Apr 7, 2024
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