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31.
The amphioxus genome and the evolution of the chordate karyotype 总被引:2,自引:0,他引:2
Putnam NH Butts T Ferrier DE Furlong RF Hellsten U Kawashima T Robinson-Rechavi M Shoguchi E Terry A Yu JK Benito-Gutiérrez EL Dubchak I Garcia-Fernàndez J Gibson-Brown JJ Grigoriev IV Horton AC de Jong PJ Jurka J Kapitonov VV Kohara Y Kuroki Y Lindquist E Lucas S Osoegawa K Pennacchio LA Salamov AA Satou Y Sauka-Spengler T Schmutz J Shin-I T Toyoda A Bronner-Fraser M Fujiyama A Holland LZ Holland PW Satoh N Rokhsar DS 《Nature》2008,453(7198):1064-1071
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Automatic patent document summarization for collaborative knowledge systems and services 总被引:1,自引:0,他引:1
Engineering and research teams often develop new products and technologies by referring to inventions described in patent
databases. Efficient patent analysis builds R&D knowledge, reduces new product development time, increases market success,
and reduces potential patent infringement. Thus, it is beneficial to automatically and systematically extract information
from patent documents in order to improve knowledge sharing and collaboration among R&D team members. In this research, patents
are summarized using a combined ontology based and TF-IDF concept clustering approach. The ontology captures the general knowledge
and core meaning of patents in a given domain. Then, the proposed methodology extracts, clusters, and integrates the content
of a patent to derive a summary and a cluster tree diagram of key terms. Patents from the International Patent Classification
(IPC) codes B25C, B25D, B25F (categories for power hand tools) and B24B, C09G and H011 (categories for chemical mechanical
polishing) are used as case studies to evaluate the compression ratio, retention ratio, and classification accuracy of the
summarization results. The evaluation uses statistics to represent the summary generation and its compression ratio, the ontology
based keyword extraction retention ratio, and the summary classification accuracy. The results show that the ontology based
approach yields about the same compression ratio as previous non-ontology based research but yields on average an 11% improvement
for the retention ratio and a 14% improvement for classification accuracy. 相似文献
33.
A second generation human haplotype map of over 3.1 million SNPs 总被引:2,自引:0,他引:2
International HapMap Consortium Frazer KA Ballinger DG Cox DR Hinds DA Stuve LL Gibbs RA Belmont JW Boudreau A Hardenbol P Leal SM Pasternak S Wheeler DA Willis TD Yu F Yang H Zeng C Gao Y Hu H Hu W Li C Lin W Liu S Pan H Tang X Wang J Wang W Yu J Zhang B Zhang Q Zhao H Zhao H Zhou J Gabriel SB Barry R Blumenstiel B Camargo A Defelice M Faggart M Goyette M Gupta S Moore J Nguyen H Onofrio RC Parkin M Roy J Stahl E Winchester E Ziaugra L Altshuler D Shen Y Yao Z Huang W Chu X He Y Jin L Liu Y 《Nature》2007,449(7164):851-861
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations. 相似文献
34.
MicroRNA silencing through RISC recruitment of eIF6 总被引:1,自引:0,他引:1
Chendrimada TP Finn KJ Ji X Baillat D Gregory RI Liebhaber SA Pasquinelli AE Shiekhattar R 《Nature》2007,447(7146):823-828
35.
It has often been proposed that the vocal calls of monkeys are precursors of human speech, in part because they provide critical information to other members of the species who rely on them for survival and social interactions. Both behavioural and lesion studies suggest that monkeys, like humans, use the auditory system of the left hemisphere preferentially to process vocalizations. To investigate the pattern of neural activity that might underlie this particular form of functional asymmetry in monkeys, we measured local cerebral metabolic activity while the animals listened passively to species-specific calls compared with a variety of other classes of sound. Within the superior temporal gyrus, significantly greater metabolic activity occurred on the left side than on the right, only in the region of the temporal pole and only in response to monkey calls. This functional asymmetry was absent when these regions were separated by forebrain commissurotomy, suggesting that the perception of vocalizations elicits concurrent interhemispheric interactions that focus the auditory processing within a specialized area of one hemisphere. 相似文献
36.
Krishnan KJ Reeve AK Samuels DC Chinnery PF Blackwood JK Taylor RW Wanrooij S Spelbrink JN Lightowlers RN Turnbull DM 《Nature genetics》2008,40(3):275-279
Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are likely to have a central role in the aging of postmitotic tissues. Understanding the mechanism of the formation and subsequent clonal expansion of these mtDNA deletions is an essential first step in trying to prevent their occurrence. We review the previous literature and recent results from our own laboratories, and conclude that mtDNA deletions are most likely to occur during repair of damaged mtDNA rather than during replication. This conclusion has important implications for prevention of mtDNA disease and, potentially, for our understanding of the aging process. 相似文献
37.
MicroRNA-responsive 'sensor' transgenes uncover Hox-like and other developmentally regulated patterns of vertebrate microRNA expression 总被引:18,自引:0,他引:18
Mansfield JH Harfe BD Nissen R Obenauer J Srineel J Chaudhuri A Farzan-Kashani R Zuker M Pasquinelli AE Ruvkun G Sharp PA Tabin CJ McManus MT 《Nature genetics》2004,36(10):1079-1083
MicroRNAs (miRNAs) are a class of short ( approximately 22-nt) noncoding RNA molecules that downregulate expression of their mRNA targets. Since their discovery as regulators of developmental timing in Caenorhabditis elegans, hundreds of miRNAs have been identified in both animals and plants. Here, we report a technique for visualizing detailed miRNA expression patterns in mouse embryos. We elucidate the tissue-specific expression of several miRNAs during embryogenesis, including two encoded by genes embedded in homeobox (Hox) clusters, miR-10a and miR-196a. These two miRNAs are expressed in patterns that are markedly reminiscent of those of Hox genes. Furthermore, miR-196a negatively regulates Hoxb8, indicating that its restricted expression pattern probably reflects a role in the patterning function of the Hox complex. 相似文献
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39.
Analysis of the coding genome of diffuse large B-cell lymphoma 总被引:1,自引:0,他引:1
Pasqualucci L Trifonov V Fabbri G Ma J Rossi D Chiarenza A Wells VA Grunn A Messina M Elliot O Chan J Bhagat G Chadburn A Gaidano G Mullighan CG Rabadan R Dalla-Favera R 《Nature genetics》2011,43(9):830-837
Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular pathways, remains unknown. By combining next-generation sequencing and copy number analysis, we show that the DLBCL coding genome contains, on average, more than 30 clonally represented gene alterations per case. This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells. These results provide initial data on the complexity of the DLBCL coding genome and identify novel dysregulated pathways underlying its pathogenesis. 相似文献
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