Create a script that generate ACMG and ComPerMed class

mobidic / SEAL

SEAL db - Simple, Efficient And Lite database for NGS

GNU General Public License v3.0

8 stars 1 forks source link

Create a script that generate ACMG and ComPerMed class #51

Open Char-Al opened 12 months ago

Char-Al commented 12 months ago

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.

Char-Al commented 11 months ago

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

Char-Al commented 7 months ago

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