The Next Frontier in Genetic Diagnostics: Integrating Multi-Omics, Long-Read Sequencing, and Artificial Intelligence

The laboratory diagnosis of genetic diseases has transitioned from a localized, single-gene inquiry into a comprehensive, multi-dimensional analysis of the human genome and its various biological expressions. For decades, the "diagnostic odyssey" a period of several years during which a patient undergoes multiple inconclusive tests was the standard experience for families with rare disorders. However, the rapid evolution of sequencing technologies, coupled with functional omics and artificial intelligence, has fundamentally altered this trajectory. By moving beyond the identification of simple nucleotide changes and into the realm of structural variation, transcriptomics, and real-time protein analysis, clinical laboratories are achieving diagnostic yields that were previously unimaginable. This review examines the current state of these laboratory techniques, focusing on the integration of whole-genome sequencing, long-read technologies, and the emergent role of transcriptomic and proteomic validation.

کلیدواژه ها:

Whole-Genome Sequencing ، Long-Read Sequencing ، Transcriptomics ، Multi- omics Integration