Hasil untuk "Maps"

Ryan E. Mills, Klaudia Walter, C. Stewart et al.

Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map encompassed 22,025 deletions and 6,000 additional SVs, including insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, which facilitated analysing their origin and functional impact. We examined numerous whole and partial gene deletions with a genotyping approach and observed a depletion of gene disruptions amongst high frequency deletions. Furthermore, we observed differences in the size spectra of SVs originating from distinct formation mechanisms, and constructed a map of SV hotspots formed by common mechanisms. Our analytical framework and SV map serves as a resource for sequencing-based association studies.

P. Newson, John Krumm

R. Ji, R. Gereau, M. Malcangio et al.

Robert C. Wilson, Yuji K. Takahashi, G. Schoenbaum et al.

K. Birnbaum, D. Shasha, Jean Y. J. Wang et al.

M. Zoback

Cheng-Tao Chu, Sang Kyun Kim, Yi-An Lin et al.

M. Cobb, E. Goldsmith

Bill N. Schilit, M. Theimer

B. Dérijard, J. Raingeaud, T. Barrett et al.

A. Konieczny, F. Ausubel

J. Brown, O. J. Ferrians, J. A. Heginbottom et al.

K. Manly, Jr. Robert H. Cudmore, J. M. Meer

Randall Smith, Matthew Self, P. Cheeseman

In this paper, we describe a representation for spatial information, called the stochastic map, and associated procedures for building it, reading information from it, and revising it incrementally as new information is obtained. The map contains the estimates of relationships among objects in the map, and their uncertainties, given all the available information. The procedures provide a general solution to the problem of estimating uncertain relative spatial relationships. The estimates are probabilistic in nature, an advance over the previous, very conservative, worst-case approaches to the problem. Finally, the procedures are developed in the context of state-estimation and filtering theory, which provides a solid basis for numerous extensions.

M. Vitaterna, D. P. King, Anne-Marie Chang et al.

Kanae Oda, Yukiko Matsuoka, Akira Funahashi et al.

The epidermal growth factor receptor (EGFR) signaling pathway is one of the most important pathways that regulate growth, survival, proliferation, and differentiation in mammalian cells. Reflecting this importance, it is one of the best‐investigated signaling systems, both experimentally and computationally, and several computational models have been developed for dynamic analysis. A map of molecular interactions of the EGFR signaling system is a valuable resource for research in this area. In this paper, we present a comprehensive pathway map of EGFR signaling and other related pathways. The map reveals that the overall architecture of the pathway is a bow‐tie (or hourglass) structure with several feedback loops. The map is created using CellDesigner software that enables us to graphically represent interactions using a well‐defined and consistent graphical notation, and to store it in Systems Biology Markup Language (SBML).

A. Calderbank, I. Daubechies, W. Sweldens et al.

Sanjay Kumar, J. Boehm, John C. Lee

R. Horton, L. Wilming, V. Rand et al.

Louise Y. Sun, D. Wijeysundera, G. Tait et al.