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排序方式: 共有626条查询结果,搜索用时 125 毫秒
621.
Replicating genotype-phenotype associations 总被引:1,自引:0,他引:1
NCI-NHGRI Working Group on Replication in Association Studies Chanock SJ Manolio T Boehnke M Boerwinkle E Hunter DJ Thomas G Hirschhorn JN Abecasis G Altshuler D Bailey-Wilson JE Brooks LD Cardon LR Daly M Donnelly P Fraumeni JF Freimer NB Gerhard DS Gunter C Guttmacher AE Guyer MS Harris EL Hoh J Hoover R Kong CA Merikangas KR Morton CC Palmer LJ Phimister EG Rice JP Roberts J Rotimi C Tucker MA Vogan KJ Wacholder S Wijsman EM Winn DM Collins FS 《Nature》2007,447(7145):655-660
622.
Sequencing and comparison of yeast species to identify genes and regulatory elements 总被引:135,自引:0,他引:135
Identifying the functional elements encoded in a genome is one of the principal challenges in modern biology. Comparative genomics should offer a powerful, general approach. Here, we present a comparative analysis of the yeast Saccharomyces cerevisiae based on high-quality draft sequences of three related species (S. paradoxus, S. mikatae and S. bayanus). We first aligned the genomes and characterized their evolution, defining the regions and mechanisms of change. We then developed methods for direct identification of genes and regulatory motifs. The gene analysis yielded a major revision to the yeast gene catalogue, affecting approximately 15% of all genes and reducing the total count by about 500 genes. The motif analysis automatically identified 72 genome-wide elements, including most known regulatory motifs and numerous new motifs. We inferred a putative function for most of these motifs, and provided insights into their combinatorial interactions. The results have implications for genome analysis of diverse organisms, including the human. 相似文献
623.
Kidd JM Cooper GM Donahue WF Hayden HS Sampas N Graves T Hansen N Teague B Alkan C Antonacci F Haugen E Zerr T Yamada NA Tsang P Newman TL Tüzün E Cheng Z Ebling HM Tusneem N David R Gillett W Phelps KA Weaver M Saranga D Brand A Tao W Gustafson E McKernan K Chen L Malig M Smith JD Korn JM McCarroll SA Altshuler DA Peiffer DA Dorschner M Stamatoyannopoulos J Schwartz D Nickerson DA Mullikin JC Wilson RK Bruhn L Olson MV Kaul R Smith DR Eichler EE 《Nature》2008,453(7191):56-64
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. 相似文献
624.
S Seshagiri EW Stawiski S Durinck Z Modrusan EE Storm CB Conboy S Chaudhuri Y Guan V Janakiraman BS Jaiswal J Guillory C Ha GJ Dijkgraaf J Stinson F Gnad MA Huntley JD Degenhardt PM Haverty R Bourgon W Wang H Koeppen R Gentleman TK Starr Z Zhang DA Largaespada TD Wu FJ de Sauvage 《Nature》2012,488(7413):660-664
625.
Temperature sensitivity of soil carbon decomposition and feedbacks to climate change 总被引:76,自引:0,他引:76
Significantly more carbon is stored in the world's soils--including peatlands, wetlands and permafrost--than is present in the atmosphere. Disagreement exists, however, regarding the effects of climate change on global soil carbon stocks. If carbon stored belowground is transferred to the atmosphere by a warming-induced acceleration of its decomposition, a positive feedback to climate change would occur. Conversely, if increases of plant-derived carbon inputs to soils exceed increases in decomposition, the feedback would be negative. Despite much research, a consensus has not yet emerged on the temperature sensitivity of soil carbon decomposition. Unravelling the feedback effect is particularly difficult, because the diverse soil organic compounds exhibit a wide range of kinetic properties, which determine the intrinsic temperature sensitivity of their decomposition. Moreover, several environmental constraints obscure the intrinsic temperature sensitivity of substrate decomposition, causing lower observed 'apparent' temperature sensitivity, and these constraints may, themselves, be sensitive to climate. 相似文献
626.
驾驶辅助系统不仅是为了辅助驾驶员进行一般的驾驶活动,而且要能在关键情况下接管驾驶。使用原型车进行试驾是测试该系统最现实的方式,试驾可使驾驶辅助系统暴露在各种实际环境下,从而检查其可靠性。由于带有原型的测试驱动器成本很高,而且难以完全相同方式复制驾驶活动,因此在系统开发和测试过程中经常使用硬件在环(HiL)测试台。HiL测试台不仅提供相关硬件,还可以为这些被测系统(SUT)提供模拟环境。在实际车辆的试驾过程中,由于不同的环境影响,电气系统的电压会发生变化,这些变化是基于不断变化的电气负载影响。目前,车辆电气系统的电压变化无法在硬件在环测试台上模拟。为了确定电压变化的原因和潜在现象,需要对实际试驾记录数据进行检查,以了解潜在现象。然后将这些结果用于推导唯象激励,该唯象激励可用于模拟测试台上的真实电压曲线。本文分析了车辆测量结果,目的是找出车载电压长期和短期热变化的可能原因,提出一种在HiL测试台上进行虚拟测试驱动的情况下真实模拟电压变化的方法。 相似文献