A newly designed computational method has proven its usefulness in counting copies of duplicated genome sequences and in doing initial assessments of their contents, according to a study to be published Aug. 30 in Nature Genetics. The number of copies of particular DNA segments can differ from one person to the next.
The researchers named their method mrFAST, an acronym for micro-read Fast Alignment Search Tool. The study is titled, "Personalized Copy Number and Segmental Duplication Maps Using Next Generation Sequencing." The lead authors are Dr. Can Alkan, a senior fellow, and Jeffrey M. Kidd, a graduate student, both in the Department of Genome Sciences at the University of Washington (UW). Dr. Evan E. Eichler, UW professor of genome sciences, is the senior author.
Segmental duplications in the human genome have been associated with susceptibility and resistance to disease. Duplicated segments have been linked to such disorders as lupus, Crohn's disease, mental retardation, schizophrenia, color blindness, psoriasis, and age-related macular degeneration. Segmental duplications often contain duplicated genes, many of which have an unknown function. Individuals have different numbers of copies of some of these duplications. Determining the number, content, and location of segmental duplications is an important step in understanding the health significance of gene copy-number variation.
"New computational methods, combined with next-generation DNA sequencing technology, has provided for the first time an accurate census of specific genes that exist in varying number of copies," Alkan said.
"This is a way to deal with some of the most complex regions of the human genome and do what might appear to be a simple thing: Count whether a person has one, two, three or more copies of a gene," explained Kidd. "In fact, such counting is surprisingly difficult." Many standard genome analyses exclude duplication-rich or repeat-ri
|Contact: Leila Gray|
University of Washington