Change Point Methods in Genetics

Abstract

In this review article, recent applications of change point methods in genetics will be discussed. The latest advances in bio‐technology have provided new tools for scientists to carry out health and life science research. The array, or microarray, technology has made it possible to simultaneously quantify expression patterns of thousands or hundreds of thousands of genes in various cell lines, tissues, and conditions. The resulting datasets from various experiments using microarray technology are of high‐throughput and cast challenges to data analysts. Specifically, to study the genetic reasons of tumor growth, cancer formation, and genetic diseases, geneticists can now use microarray technology to conduct DNA copy number experiments to obtain gene positions, log base 2 ratio intensities, and DNA copy numbers along the genome. It turns out that identifying loci of DNA copy number variations along the chromosome or genome can be viewed as a change point problem of detecting the changes presented in the sequence of log ratio intensities. The author will discuss the background of DNA copy number experiments, especially the experiments using the array comparative genomic hybridization (aCGH) technique, the resulting aCGH data, and the appropriate change point methods that can be used to analyze the aCGH data. Several applications of the change point methods to the analysis of fibroblast cell line data, the breast tumor data, and the breast cancer data will be given.