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Create a script that generate ACMG and ComPerMed class #51

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Char-Al opened this issue Jul 10, 2023 · 2 comments
Open

Create a script that generate ACMG and ComPerMed class #51

Char-Al opened this issue Jul 10, 2023 · 2 comments
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@thomasguignard @Char-Al

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Char-Al commented Jul 10, 2023

Currently, the project lacks a script to generate ACMG (American College of Medical Genetics and Genomics) and ComPerMed (Comprehensive Personalized Medicine) classifications for genetic variants. This issue proposes the creation of a new script that will automate the process of generating these classifications based on specified criteria.
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Char-Al commented Aug 4, 2023

same issue here : https://www.biostars.org/p/442882/

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Char-Al commented Dec 8, 2023

A New python api IS available : https://pypi.org/project/genebe/

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@thomasguignard @Char-Al