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  • 1
    Publication Date: 2015-01-10
    Description: : Biological sequence variants are commonly represented in scientific literature, clinical reports and databases of variation using the mutation nomenclature guidelines endorsed by the Human Genome Variation Society (HGVS). Despite the widespread use of the standard, no freely available and comprehensive programming libraries are available. Here we report an open-source and easy-to-use Python library that facilitates the parsing, manipulation, formatting and validation of variants according to the HGVS specification. The current implementation focuses on the subset of the HGVS recommendations that precisely describe sequence-level variation relevant to the application of high-throughput sequencing to clinical diagnostics. Availability and implementation: The package is released under the Apache 2.0 open-source license. Source code, documentation and issue tracking are available at http://bitbucket.org/hgvs/hgvs/ . Python packages are available at PyPI ( https://pypi.python.org/pypi/hgvs ). Contact: reecehart@gmail.com Supplementary information: Supplementary data are available at Bioinformatics online.
    Print ISSN: 1367-4803
    Electronic ISSN: 1460-2059
    Topics: Biology , Computer Science , Medicine
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  • 2
    Publication Date: 2013-10-02
    Description: Topological motifs in synaptic connectivity—such as the cortical column—are fundamental to processing of information in cortical structures. However, the mesoscale topology of cortical networks beyond columns remains largely unknown. In the olfactory cortex, which lacks an obvious columnar structure, sensory-evoked patterns of activity have failed to reveal organizational principles of...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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  • 3
    Publication Date: 2015-06-27
    Description: Marmot Creek Research Basin in the Canadian Rockies has been the site of intensive streamflow, groundwater, snow accumulation, precipitation, and air temperature observations at multiple elevations. The basin was instrumented in 1962, subjected to forestry experiments in the mid-1970s and experienced extreme flooding in 2013. Climate change, forest cover change, and recent extreme weather make the basin an ideal laboratory for studying hydrological resilience. Observations show increases in low elevation air temperature, multiple day and spring precipitation, interannual variability of precipitation and high elevation groundwater levels. Observations also show decreases in peak seasonal snow accumulation and low elevation groundwater levels. Despite these substantial hydrometeorological and groundwater changes, streamflow volume, timing of peak, and magnitude of the peak are not changing. Streamflow volumes are also insensitive to forest cover changes and teleconnections. The June 2013 flood was unprecedented in the period of record and the basin significantly moderated the hydrological response to the extreme precipitation; the 2013 storm precipitation depth was 65% greater than next highest storm total over 51 years, however the 2013 peak streamflow was only 32% greater than the next highest peak flow recorded. The hydrology of Marmot Creek Research Basin displays remarkable resilience to changing climate, extreme weather and forest cover change. This article is protected by copyright. All rights reserved.
    Print ISSN: 0885-6087
    Electronic ISSN: 1099-1085
    Topics: Architecture, Civil Engineering, Surveying , Geography
    Published by Wiley
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  • 4
    Publication Date: 2015-06-08
    Description: To illustrate the hydrological impact of climate and land use change on an unregulated basin, the agriculture and wetland dominated Smith Creek Research Basin (SCRB) was examined in detail. Streamflows (1975-1994) show behaviour typical of the Canadian Prairies – generation primarily by snowmelt and cessation in May due to lack of runoff or groundwater contributions. Depressional storage has been drained for decades, reducing the extent of ponds by 58% and increasing drainage channel length 780%. Climate has also changed; increasing temperatures since 1942 have brought on a gradual increase in the rainfall fraction of precipitation (no trends in total precipitation) and an earlier snowmelt by 2 weeks. The number of multiple day rainfall events has increased by half, which may make rainfall-runoff generation mechanisms more efficient. Annual streamflow volume and runoff ratio have increased 14-fold and 12-fold respectively since 1975, with dramatically increasing contributions from rainfall and mixed runoff regimes. Snowmelt runoff has declined from 86% in the 1970s to 47% recently whilst rainfall runoff has increased from 7% to 34% of discharge. Peak discharge has tripled since 1975, with a major shift in 1994. Recent flood volumes in SCRB have been abnormally large and high flows in June 2012 and flooding in June 2014 was caused solely by rainfall, something never before recorded at the basin. Changes to the observed character of precipitation, runoff generation mechanisms and depressional storage are substantial, but it unlikely that any single change can explain the dramatic shift in SCRB surface hydrology. Further diagnostic investigation using process hydrology simulations is needed to explain the observed regime changes. This article is protected by copyright. All rights reserved.
    Print ISSN: 0885-6087
    Electronic ISSN: 1099-1085
    Topics: Architecture, Civil Engineering, Surveying , Geography
    Published by Wiley
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  • 5
    Publication Date: 2008-02-15
    Description: Choanoflagellates are the closest known relatives of metazoans. To discover potential molecular mechanisms underlying the evolution of metazoan multicellularity, we sequenced and analysed the genome of the unicellular choanoflagellate Monosiga brevicollis. The genome contains approximately 9,200 intron-rich genes, including a number that encode cell adhesion and signalling protein domains that are otherwise restricted to metazoans. Here we show that the physical linkages among protein domains often differ between M. brevicollis and metazoans, suggesting that abundant domain shuffling followed the separation of the choanoflagellate and metazoan lineages. The completion of the M. brevicollis genome allows us to reconstruct with increasing resolution the genomic changes that accompanied the origin of metazoans.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562698/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562698/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉King, Nicole -- Westbrook, M Jody -- Young, Susan L -- Kuo, Alan -- Abedin, Monika -- Chapman, Jarrod -- Fairclough, Stephen -- Hellsten, Uffe -- Isogai, Yoh -- Letunic, Ivica -- Marr, Michael -- Pincus, David -- Putnam, Nicholas -- Rokas, Antonis -- Wright, Kevin J -- Zuzow, Richard -- Dirks, William -- Good, Matthew -- Goodstein, David -- Lemons, Derek -- Li, Wanqing -- Lyons, Jessica B -- Morris, Andrea -- Nichols, Scott -- Richter, Daniel J -- Salamov, Asaf -- Sequencing, J G I -- Bork, Peer -- Lim, Wendell A -- Manning, Gerard -- Miller, W Todd -- McGinnis, William -- Shapiro, Harris -- Tjian, Robert -- Grigoriev, Igor V -- Rokhsar, Daniel -- R01 CA058530/CA/NCI NIH HHS/ -- R01 CA058530-14/CA/NCI NIH HHS/ -- R01 GM077197/GM/NIGMS NIH HHS/ -- R01 HG004164/HG/NHGRI NIH HHS/ -- R01 HG004164-01/HG/NHGRI NIH HHS/ -- R37 HD028315/HD/NICHD NIH HHS/ -- England -- Nature. 2008 Feb 14;451(7180):783-8. doi: 10.1038/nature06617.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular and Cell Biology and the Center for Integrative Genomics, University of California, Berkeley, California 94720, USA. nking@berkeley.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18273011" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Cell Adhesion ; Conserved Sequence ; Eukaryotic Cells/classification/cytology/*metabolism ; Evolution, Molecular ; Extracellular Matrix/metabolism ; Gene Expression Regulation ; Genetic Speciation ; Genome/*genetics ; Hedgehog Proteins/chemistry/genetics ; Humans ; Introns/genetics ; Phosphotyrosine/metabolism ; *Phylogeny ; Protein Structure, Tertiary/genetics ; Receptors, Notch/chemistry/genetics ; Signal Transduction/genetics ; Transcription Factors/genetics/metabolism ; Transcription, Genetic
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 6
    Publication Date: 2012-03-17
    Description: Various plants and fungi have evolved ingenious devices to disperse their spores. One such mechanism is the cavitation-triggered catapult of fern sporangia. The spherical sporangia enclosing the spores are equipped with a row of 12 to 13 specialized cells, the annulus. When dehydrating, these cells induce a dramatic change of curvature in the sporangium, which is released abruptly after the cavitation of the annulus cells. The entire ejection process is reminiscent of human-made catapults with one notable exception: The sporangia lack the crossbar that arrests the catapult arm in its returning motion. We show that much of the sophistication and efficiency of the ejection mechanism lies in the two very different time scales associated with the annulus closure.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Noblin, X -- Rojas, N O -- Westbrook, J -- Llorens, C -- Argentina, M -- Dumais, J -- New York, N.Y. -- Science. 2012 Mar 16;335(6074):1322. doi: 10.1126/science.1215985.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Universite de Nice Sophia Antipolis (UNS), Laboratoire de Physique de la Matiere Condensee, CNRS UMR 7336, Nice, France. xavier.noblin@unice.fr〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22422975" target="_blank"〉PubMed〈/a〉
    Keywords: Cell Shape ; Elasticity ; Polypodium/cytology/*physiology ; Sporangia/cytology/*physiology ; Spores/*physiology ; Water
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
    Publication Date: 2016-10-13
    Description: Microform is important in understanding wetland functions and processes. But, collecting imagery of and mapping the physical structure of peatlands is often expensive and requires specialized equipment. We assessed the utility of coupling computer vision-based structure from motion with multi-view stereo photogrammetry (SfM-MVS) and ground-based photos to map peatland topography. The SfM-MVS technique was tested on an alpine peatland in Banff National Park, Canada and guidance was provided on minimizing errors. We found that coupling SfM-MVS with ground-based photos taken with a point and shoot camera is a viable and competitive technique for generating ultrahigh resolution elevations (i.e. 〈0.01 m, mean absolute error of 0.083 m). In evaluating 100+ viable SfM-MVS data collection and processing scenarios, vegetation was found to considerably influence accuracy. Vegetation class, when accounted for, reduced absolute error by as much as 50%. The logistic flexibility of ground-based SfM-MVS paired with its high resolution, low error, and low cost makes it a research area worth developing as well as a useful addition to the wetland scientists’ toolkit.
    Print ISSN: 0148-0227
    Topics: Biology , Geosciences
    Published by Wiley on behalf of American Geophysical Union (AGU).
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  • 8
    Publication Date: 2013-04-13
    Description: Techniques for detecting faults have been applied to a 3D seismic volume acquired in the outer fold and thrust belt in the deep-water Niger Delta. Firstly, the dip and azimuth of seismic traces in the data were calculated in a volume referred to as the "raw steering" data. The data were further improved by calculating two additional generations of dip volumes representing localized and subregional structural dips referred to as the "detailed" and "background" steering volumes, respectively. A multitrace similarity attribute volume was then calculated with the reflectivity and background dip-steering data as the input. The attribute data detected discrete zones of dip and similarity anomalies, trending WNW-ESE, that represented the location of discontinuities in the area. The anomalies may not have been seen clearly in the reflectivity and similarity data calculated without the application of dip-steering.
    Print ISSN: 1070-485X
    Electronic ISSN: 1938-3789
    Topics: Geosciences
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  • 9
    Publication Date: 2013-04-13
    Description: Seafloor mapping of the outer fold and thrust belt in the deep-water Niger Delta using high-resolution 3D seismic data has revealed a variety of geomorphic features related to gravity-driven compressional tectonics, submarine sedimentary processes, and fluid migration as evidenced by bathymetric ridges caused by folding of the underlying sedimentary succession, gravity slide scars, submarine canyons and pockmarks all clearly imaged on the seismic-derived seabed bathymetry. The largest canyons, typically 25–35 km in length with widths of up to 5 km, incise an EW-trending arcuate zone of elevated bathymetry across the area. This ridge is the reference point for dividing the seabed topographic pattern into distal and proximal domains. Generally, seabed topography is gentle and less complex in the proximal domain and the major structures in the area include circular clusters of fluid-escape features primarily along channel margins and in places along discontinuities and ridges in the eastern half of the seabed. The large-scale distribution of these structures in the proximal parts of the study area may be related to fluid venting from shallow and or deeper reservoirs.
    Print ISSN: 1070-485X
    Electronic ISSN: 1938-3789
    Topics: Geosciences
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  • 10
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Journal of chemical information and modeling 33 (1993), S. 6-17 
    ISSN: 1520-5142
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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