Genetic testing in clinical laboratory diagnostics: Present and future
Medicinskij alfavit(2023)
摘要
Authors discuss the current state and prospects for the development of genetic testing in clinical laboratory diagnostics, recent nucleic acids sequencing technologies, their advantages and applications. Although genome-wide association studies (GWAS) have become a standard practice in identifying SNPs to determine disease susceptibility, this approach has limitations. A novel approach is proposed: integrative genome-wide association analysis (iGWAS), which relies on gene expression information to investigate the associations between SNPs and disease phenotype. Numerous studies have shown that iGWAS can significantly facilitate the search for genetic correlations and is superior to a method that relies only on the search for SNPs. Genetic testing will facilitate the molecular-based reclassification of human diseases. Authors describe the technical aspects of nanopore sequencing, the development of an iPhone app to complement miniature sequencing devices, and the world’s first mobile genomic sequence analyzer, iGenomics.
更多查看译文
关键词
genetic testing,clinical laboratory diagnostics
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要