Mapping and sequencing of structural variation from eight human genomes.
Сравнительное исследованиеСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПоддержка правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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
Аннотация
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 overview of the normal pattern of structural variation present in these genomes, refining the location of 1,695 structural variants. We find that 50% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally variant. We discover 525 new insertion sequences that are not present in the human reference genome and show that many of these are variable in copy number between individuals. Complete sequencing of 261 structural variants reveals considerable locus complexity and provides insights into the different mutational processes that have shaped the human genome. These data provide the first high-resolution sequence map of human structural variation--a standard for genotyping platforms and a prelude to future individual genome sequencing projects.