作者: Yvette P. Conley , Leslie G. Biesecker , Stephen Gonsalves , Carrie J. Merkle , Maggie Kirk
DOI: 10.1111/JNU.12001
关键词:
摘要: Purpose: To introduce current and emerging approaches that are being utilized in the field of genomics so reader can conceptually evaluate literature appreciate how these advancing our understanding health-related issues. Organizing Construct: Each approach is described includes information related to it research, its potential clinical utility, exemplars uses, challenges technologies used for approaches, when appropriate evidence base utilization each provided. Web-based resources included who would like more in-depth provide opportunity stay up date with their utility. Conclusions: The chosen approaches—genome sequencing, genome-wide association studies, epigenomics, gene expression—are extremely valuable collecting research data help us better understand pathophysiology a variety conditions, but they also gaining utility assessment testing purposes. Clinical Relevance: Our increased molecular underpinnings disease will assist development screening tests, diagnostic tests allow prognosticate, individualized treatments, facilitate post-treatment surveillance.