geneEX: An Integrated Phenotype‐Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70139
Abstract: 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… read more here.
Keywords: rapid identification; driven algorithm; geneex integrated; integrated phenotype ... See more keywords