ABSTRACT
Every human is unique, which is largely a result of the genetic variation. Our genetic differences
not only result in distinct physical traits, they also have strong influences on our predisposition to
the development of most diseases. However, the enormous size of human genome makes the
precise measurement of genetic variation difficult. Analytical chemistry has always been playing
an essential role in genetic variation analysis. Capillary electrophoresis and fluorescence
spectroscopy had accelerated the development of first-generation DNA sequencers. The
fast-growing genomic field provides an exciting arena for analytical chemists. I would like to
share some of my work about precise DNA measurement. The talk will cover specific techniques,
such as high-accuracy DNA sequencing and haploid DNA analysis, and their application on de
novo mutation detection and non-invasive prenatal diagnosis.