Mapping and sequencing of structural variation from eight human genomes

  title={Mapping and sequencing of structural variation from eight human genomes},
  author={Jeffrey M. Kidd and Gregory M. Cooper and William F. Donahue and H. S. Hayden and Nick Sampas and Tina Graves and Nancy K. Hansen and Brian Teague and Can Alkan and Francesca Antonacci and Eric Haugen and Troy Zerr and Nazumi Alice Yamada and Peter W. K. Tsang and Tera L. Newman and Eray T{\"u}z{\"u}n and Ze Cheng and Heather M. Ebling and Nadeem Tusneem and Robert David and Will G. Gillett and Karen A. Phelps and M. B. Weaver and David J Saranga and Adrianne D Brand and Wei Tao and Erik A Gustafson and Kevin Mckernan and Li-li Chen and Maika Malig and Joshua D. Smith and Joshua M. Korn and Steven A. McCarroll and David Altshuler and Daniel A. Peiffer and Michael Dorschner and John A. Stamatoyannopoulos and David P. Schwartz and Deborah A. Nickerson and James C. Mullikin and Richard K. Wilson and Laurakay Bruhn and Maynard V. Olson and Rajinder Kaul and Douglas R. Smith and Evan E. Eichler},
Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale—particularly insertions, deletions and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive… CONTINUE READING
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