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Search Results: 1 - 10 of 127 matches for " for the MacTel Project "
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Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2
Nancy L. Parmalee, Carl Schubert, Maria Figueroa, Alan C. Bird, Tunde Peto, Mark C. Gillies, Paul S. Bernstein, Krzysztof Kiryluk, Joseph D. Terwilliger, Rando Allikmets, for the MacTel Project
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0024268
Abstract: Macular Telangiectasia type 2 (MacTel) is a relatively rare macular disease of adult onset presenting with distortions in the visual field and leading to progressive loss of visual acuity. For the purpose of a gene mapping study, several pedigrees were ascertained with multiple affected family members. Seventeen families with a total of 71 individuals (including 45 affected or possibly affected) were recruited at clinical centers in 7 countries under the auspices of the MacTel Project. The disease inheritance was consistent with autosomal dominant segregation with reduced penetrance. Genome-wide linkage analysis was performed, followed by analysis of recombination breakpoints. Linkage analysis identified a single peak with multi-point LOD score of 3.45 on chromosome 1 at 1q41-42 under a dominant model. Recombination mapping defined a minimal candidate region of 15.6 Mb, from 214.32 (rs1579634; 219.96 cM) to 229.92 Mb (rs7542797; 235.07 cM), encompassing the 1q41-42 linkage peak. Sanger sequencing of the top 14 positional candidates genes under the linkage peak revealed no causal variants in these pedigrees.
Current trends in Australian aboriginal anthropology (review article)
? Nijmegen Project Group on Australia
Bijdragen tot de Taal-, Land- en Volkenkunde , 1975,
A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
The ENCODE Project Consortium
PLOS Biology , 2011, DOI: 10.1371/journal.pbio.1001046
Abstract: The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the scientific and medical communities to interpret the human genome sequence and apply it to understand human biology and improve health. The ENCODE Consortium is integrating multiple technologies and approaches in a collective effort to discover and define the functional elements encoded in the human genome, including genes, transcripts, and transcriptional regulatory regions, together with their attendant chromatin states and DNA methylation patterns. In the process, standards to ensure high-quality data have been implemented, and novel algorithms have been developed to facilitate analysis. Data and derived results are made available through a freely accessible database. Here we provide an overview of the project and the resources it is generating and illustrate the application of ENCODE data to interpret the human genome.
G. Folatelli,Carnegie Supernova Project
Revista mexicana de astronomía y astrofísica , 2009,
Abstract: We present the low-redshift Carnegie Supernova Project (CSP), an undergoing program to follow up about 250 nearby supernovae (SNe) of all types. We brie y describe the observations which yield well-sampled, highly precise optical and near-infrared light curves in a well-understood photometric system, complemented with optical spectroscopy. As one of the main goals of the CSP, we preliminarily present the rst Hubble diagram using a sample of 30 Type-Ia SNe (SNe Ia).
The Dynamics of Ca2+ Ions within the Solvation Shell of Calbindin D9k
Elad Project,Esther Nachliel,Menachem Gutman
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0014718
Abstract: The encounter of a Ca2+ ion with a protein and its subsequent binding to specific binding sites is an intricate process that cannot be fully elucidated from experimental observations. We have applied Molecular Dynamics to study this process with atomistic details, using Calbindin D9k (CaB) as a model protein. The simulations show that in most of the time the Ca2+ ion spends within the Debye radius of CaB, it is being detained at the 1st and 2nd solvation shells. While being detained near the protein, the diffusion coefficient of the ion is significantly reduced. However, due to the relatively long period of detainment, the ion can scan an appreciable surface of the protein. The enhanced propagation of the ion on the surface has a functional role: significantly increasing the ability of the ion to scan the protein's surface before being dispersed to the bulk. The contribution of this mechanism to Ca2+ binding becomes significant at low ion concentrations, where the intervals between successive encounters with the protein are getting longer. The efficiency of the surface diffusion is affected by the distribution of charges on the protein's surface. Comparison of the Ca2+ binding dynamics in CaB and its E60D mutant reveals that in the wild type (WT) protein the carboxylate of E60 function as a preferred landing-site for the Ca2+ arriving from the bulk, followed by delivering it to the final binding site. Replacement of the glutamate by aspartate significantly reduced the ability to transfer Ca2+ ions from D60 to the final binding site, explaining the observed decrement in the affinity of the mutated protein to Ca2+.
Project 8: Using Radio-Frequency Techniques to Measure Neutrino Mass
N. S. Oblath,for the Project 8 Collaboration
Physics , 2013,
Abstract: The Project 8 experiment aims to measure the neutrino mass using tritium beta decays. Beta-decay electron energies will be measured with a novel technique: as the electrons travel in a uniform magnetic field their cyclotron radiation will be detected. The frequency of each electron's cyclotron radiation is inversely proportional to its total relativistic energy; therefore, by observing the cyclotron radiation we can make a precise measurement of the electron energies. The advantages of this technique include scalability, excellent energy resolution, and low backgrounds. The collaboration is using a prototype experiment to study the feasibility of the technique with a $^{83m}$Kr source. Demonstrating the ability to see the 17.8 keV and 30.2 keV conversion electrons from $^{83m}$Kr will show that it may be possible to measure tritium beta-decay electron energies ($Q \approx 18.6$ keV) with their cyclotron radiation. Progress on the prototype, analysis and signal-extraction techniques, and an estimate of the potential future of the experiment will be discussed.
The ATLAS Pixel Project
John Richardson,representing the ATLAS Pixel Project
Physics , 1999,
Abstract: The ATLAS experiment, at the Large Hadron Collider, will incorporate discrete, high-resolution tracking sub-systems in the form of segmented silicon detectors with 40MHz radiation-hard readout electronics. In the region closest to the pp interaction point, the thin silicon tiles will be segmented into a pixel geometry providing two-dimensional space-point information. The current status of the ATLAS pixel project will be presented with an emphasis on the performance of the front-end electronics and prototype sensors.
Project 8: Using Radio-Frequency Techniques to Measure Neutrino Mass
J. A. Formaggio,for the Project 8 Collaboration
Physics , 2011, DOI: 10.1016/j.nuclphysbps.2012.09.058
Abstract: The shape of the beta decay energy distribution is sensitive to the mass of the electron neutrino. Attempts to measure the endpoint shape of tritium decay have so far seen no distortion from the zero-mass form. Here we show that a new type of electron energy spectroscopy could improve future measurements of this spectrum and therefore of the neutrino mass. We propose to detect the coherent cyclotron radiation emitted by an energetic electron in a magnetic field. For mildly relativistic electrons, like those in tritium decay, the relativistic shift of the cyclotron frequency allows us to extract the electron energy from the emitted radiation. As the technique inherently involves the measurement of a frequency in a non-destructive manner, it can, in principle, achieve a high degree of resolution and accuracy.
The scientific potential of LOFAR for time-domain astronomy
Rob Fender,for the LOFAR Transients Key Science Project
Physics , 2011, DOI: 10.1017/S1743921312000130
Abstract: LOFAR is a groundbreaking low-frequency radio telescope currently nearing completion across northern europe. As a software telescope with no moving parts, enormous fields of view and multi-beaming, it has fantastic potential for the exploration of the time-variable universe. In this brief paper I outline LOFAR's capabilities, as well as our plans to use it for a range of transient searches and some crude estimated rates of transient detections.
Predicting discovery rates of genomic features
Simon Gravel,NHLBI GO Exome Sequencing Project
Quantitative Biology , 2014,
Abstract: Successful sequencing experiments require judicious sample selection. However, this selection must often be performed on the basis of limited preliminary data. Predicting the statistical properties of the final sample based on preliminary data can be challenging, because numerous uncertain model assumptions may be involved. Here, we ask whether we can predict ``omics" variation across many samples by sequencing only a fraction of them. In the infinite-genome limit, we find that a pilot study sequencing $5\%$ of a population is sufficient to predict the number of genetic variants in the entire population within $6\%$ of the correct value, using an estimator agnostic to demography, selection, or population structure. To reach similar accuracy in a finite genome with millions of polymorphisms, the pilot study would require about $15\%$ of the population. We present computationally efficient jackknife and linear programming methods that exhibit substantially less bias than the state of the art when applied to simulated data and sub-sampled 1000 Genomes Project data. Extrapolating based on the NHLBI Exome Sequencing Project data, we predict that $7.2\%$ of sites in the capture region would be variable in a sample of $50,000$ African-Americans, and $8.8\%$ in a European sample of equal size. Finally, we show how the linear programming method can also predict discovery rates of various genomic features, such as the number of transcription factor binding sites across different cell types.
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