[KSCI] Korea Science Citation Index Service

http://dx.doi.org/10.5808/GI.2016.14.2.42

Ultra-rare Disease and Genomics-Driven Precision Medicine

Lee, Sangmoon (Department of Biomedical Sciences, Seoul National University College of Medicine)
Choi, Murim (Department of Biomedical Sciences, Seoul National University College of Medicine)

Publication Information

Abstract

Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.

Keywords

next-generation sequencing; personalized medicine; precision medicine; rare disease; whole exome sequencing; whole genome sequencing;

Citations & Related Records

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