AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.

ABSTRACT:

Background

Diagnosing genetic disorders requires extensive manual curation and interpretation of candidate variants, a labor-intensive task even for trained geneticists. Although artificial intelligence (AI) shows promise in aiding these diagnoses, existing AI tools have only achieved moderate success for primary diagnosis.

Methods

AI-MARRVEL (AIM) uses a random-forest machine-learning classifier trained on over 3.5 million variants from thousands of diagnosed cases. AIM additionally incorporates expert-engineered features into training to recapitulate the intricate decision-making processes in molecular diagnosis. The online version of AIM is available at https://ai.marrvel.org. To evaluate AIM, we benchmarked it with diagnosed patients from three independent cohorts.

Re

SUBMITTER: Mao D 

PROVIDER: S-EPMC11221788 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature