Article
Mapping and sequencing of structural variation from eight human genomes.
Nature - 1 May 2008
Kidd Jeffrey M, Cooper Gregory M, Donahue William F, Hayden Hillary S, Sampas Nick, Graves Tina, Hansen Nancy, Teague Brian, Alkan Can, Antonacci Francesca, Haugen Eric, Zerr Troy, Yamada N Alice, Tsang Peter, Newman Tera L, Tüzün Eray, Cheng Ze, Ebling Heather M, Tusneem Nadeem, David Robert, Gillett Will, Phelps Karen A, Weaver Molly, Saranga David, Brand Adrianne, Tao Wei, Gustafson Erik, McKernan Kevin, Chen Lin, Malig Maika, Smith Joshua D, Korn Joshua M, McCarroll Steven A, Altshuler David A, Peiffer Daniel A, Dorschner Michael, Stamatoyannopoulos John, Schwartz David, Nickerson Deborah A, Mullikin James C, Wilson Richard K, Bruhn Laurakay, Olson Maynard V, Kaul Rajinder, Smith Douglas R, Eichler Evan E
Abstract excerpt
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...
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