Genotyping Technologies and Applications in the Era of Precision Medicine

Jie Huang, MD, MPH, PhD, Yuan Lin, MD, PhD


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]

Full Text:



  • There are currently no refbacks.