Dr. Olson's research involves large-scale genome analysis, with emphases
both on technology development and applications. In technology
development, the major focus is on integrating the increasingly diverse
repertoire of DNA-sequencing methods with the goal of efficiently
obtaining accurate, finished sequences of genomes and genome segments.
Determination of accurate, finished sequences will continue to play an
important role, particularly in genetic studies, since investigators must
frequently detect a single, functionally important change within millions
of base pairs, sampled from a genetic background that may differ
substantially from available reference sequences. Hence, part of the
challenge when searching for mutations in real-world settings lies in
identifying and analyzing reference sequences that are well matched to the
genetic backgrounds on which the mutations occurred. Typical applications
to human genetics involve searching within candidate regions, established
by linkage analysis, for causal mutations in pedigrees segregating
dominant mutations that cause Mendelian genetic diseases. Dr. Olson is
also involved in applying these methods to pathogens, particularly to
bacteria that chronically infect individual humans or cause epidemics in
human populations.