analysis of microsatellite variation in drosophila melanogaster with population-scale genome sequencing微卫星分析变化与人口规模的黑腹果蝇基因组测序.pdfVIP

Analysis of Microsatellite Variation in Drosophila melanogaster with Population-Scale Genome Sequencing 1 2 3,5 3,5 2,4 John W. Fondon III *, Andy Martin , Stephen Richards , Richard A. Gibbs , David Mittelman * 1 Department of Biology, University of Texas at Arlington, Arlington, Texas, United States of America, 2 Virginia Bioinformatics Institute, Virginia Tech, Blacksburg, Virginia, United States of America, 3 Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America, 4 Department of Biological Sciences, Virginia Tech, Blacksburg, Virginia, United States of America, 5 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America Abstract Genome sequencing technologies promise to revolutionize our understanding of genetics, evolution, and disease by making it feasible to survey a broad spectrum of sequence variation on a population scale. However, this potential can only be realized to the extent that methods for extracting and interpreting distinct forms of variation can be established. The error profiles and read length limitations of early versions of next-generation sequencing technologies rendered them ineffective for some sequence variant types, particularly microsatellites and other tandem repeats, and fostered the general misconception that such variants are inherently inaccessible to these platforms. At the same time, tandem repeats have emerged as important sources of functional variation. Tandem repeats are often located in and around genes, and frequent mutations in their lengths exert quantitative effects on