GeneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders.

ABSTRACT:

Background

In the diagnostic process of monogenic genetic disorders, identifying pathogenic variants is a crucial step. Thanks to the widespread adoption of Next-Generation Sequencing (NGS) technology, diagnostic efficiency has been significantly enhanced. However, with the increasing demand for diagnostic accuracy in clinical practice for monogenic genetic diseases, accurately and swiftly pinpointing pathogenic variants among numerous candidate variants remains a significant challenge. The complexity of data analysis and interpretation continues to limit both the efficiency and accuracy of diagnosis.

Methods

In this study, we have developed an innovative phenotype-driven algorithm, geneEX. This algorithm integrates large language model technology to accurately extract pheno

SUBMITTER: Zhang J 

PROVIDER: S-EPMC12451470 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature