Genotyping Technologies and Applications in the Era of Precision Medicine

Abstract

Over the past decade, genotyping technologies have revolutionized the genomic research field by providing cost-effective genotyping of tens of thousands to millions of genetic markers at population scale. That became the driving force behind genome-wide association studies. The price of a genotyping chip with ~1 million variants is now less than $50. We now see large biobank studies with genotyping data, including the UK Biobank, the China Kadoorie biobank, and the US Million Veteran Program. Second-generation whole-genome sequencing currently costs less than $1,000; and as third-generation sequencing technologies continue to mature, is there still a bright future for genotyping? In this review, we introduce some basic technological points and outline the current status of genotyping technologies; we then discuss the challenges and opportunities for genotyping in the current state and future of precision medicine.

[N A J Med Sci. 2017;10(4):176-180.   DOI:  10.7156/najms.2017.1004176]