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Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.

Clinical genetics - 1 Aug 2024

Stawiński Piotr, Płoski Rafał

Abstract excerpt

We present GeneBe, an online platform streamlining the automated application of American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) criteria for assessment of pathogenicity of genetic variants. GeneBe utilizes automated algorithms that evaluate 17 criteria from 28, closely aligning with current guidelines and...

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PMID: 38440907
DOI: 10.1111/cge.14516

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