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- Imanishi, T., et al.
(författare)
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Integrative annotation of 21,037 human genes validated by full-length cDNA clones
- 2004
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Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 2:6, s. 856-875
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Tidskriftsartikel (refereegranskat)abstract
- The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.
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| 2. |
- Blösch, Günter, et al.
(författare)
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Twenty-three unsolved problems in hydrology (UPH) - a community perspective
- 2019
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Ingår i: Hydrological Sciences Journal. - : Informa UK Limited. - 0262-6667 .- 2150-3435. ; 64:10, s. 1141-1158
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Tidskriftsartikel (refereegranskat)abstract
- This paper is the outcome of a community initiative to identify major unsolved scientific problems in hydrology motivated by a need for stronger harmonisation of research efforts. The procedure involved a public consultation through online media, followed by two workshops through which a large number of potential science questions were collated, prioritised, and synthesised. In spite of the diversity of the participants (230 scientists in total), the process revealed much about community priorities and the state of our science: a preference for continuity in research questions rather than radical departures or redirections from past and current work. Questions remain focused on the process-based understanding of hydrological variability and causality at all space and time scales. Increased attention to environmental change drives a new emphasis on understanding how change propagates across interfaces within the hydrological system and across disciplinary boundaries. In particular, the expansion of the human footprint raises a new set of questions related to human interactions with nature and water cycle feedbacks in the context of complex water management problems. We hope that this reflection and synthesis of the 23 unsolved problems in hydrology will help guide research efforts for some years to come.
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| 3. |
- Buttery, S. C., et al.
(författare)
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Contemporary perspectives in COPD: Patient burden, the role of gender and trajectories of multimorbidity
- 2021
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Ingår i: Respirology. - : Wiley. - 1323-7799 .- 1440-1843. ; 26:5, s. 419-441
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Tidskriftsartikel (refereegranskat)abstract
- An individual's experience of COPD is determined by many factors in addition to the pathological features of chronic bronchitis and emphysema and the symptoms that derive directly from them. Multimorbidity is the norm rather than the exception, so most people with COPD are living with a range of other medical problems which can decrease overall quality of life. COPD is caused by the inhalation of noxious particles or gases, in particular tobacco smoke, but also by early life disadvantage impairing lung development and by occupations where inhaled exposures are common (e.g. industrial, farming and cleaning work). Wealthy people are therefore relatively protected from developing COPD and people who do develop the condition may have reduced resources to cope. COPD is also no longer a condition that predominantly affects men. The prevalence of COPD among women has equalled that of men since 2008 in many high-income countries, due to increased exposure to tobacco, and in low-income countries due to biomass fuels. COPD is one of the leading causes of death in women in the USA, and death rates attributed to COPD in women in some countries are predicted to overtake those of men in the next decade. Many factors contribute to this phenomenon, but in addition to socioeconomic and occupational factors, there is increasing evidence of a higher susceptibility of females to smoking and pollutants. Quality of life is also more significantly impaired in women. Although most medications (bronchodilators and inhaled corticosteroids) used to treat COPD demonstrate similar trends for exacerbation prevention and lung function improvement in men and women, this is an understudied area and clinical trials frequently have a preponderance of males. A better understanding of gender-based predictors of efficacy of all therapeutic interventions is crucial for comprehensive patient care. There is an urgent need to recognize the increasing burden of COPD in women and to facilitate global improvements in disease prevention and management in this specific population. Many individuals with COPD follow a trajectory of both lung function decline and also multimorbidity. Unfavourable lung function trajectories throughout life have implications for later development of other chronic diseases. An enhanced understanding of the temporal associations underlying the development of coexisting diseases is a crucial first step in unravelling potential common disease pathways. Lessons can be learned from exploring disease trajectories of other NCD as well as multimorbidity development. Further research will be essential to explain how early life risk factors commonly influence trajectories of COPD and other diseases, how different diseases develop in relation to each other in a temporal way and how this ultimately leads to different multimorbidity patterns in COPD. This review integrates new knowledge and ideas pertaining to three broad themes (i) the overall burden of disease in COPD, (ii) an unappreciated high burden in women and (iii) the contrast of COPD trajectories and different multimorbidity patterns with trajectories of other NCD. The underlying pathology of COPD is largely irreversible, but many factors noted in the review are potentially amenable to intervention. Health and social care systems need to ensure that effective treatment is accessible to all people with the condition. Preventive strategies and treatments that alter the course of disease are crucial, particularly for patients with COPD as one of many problems.
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| 5. |
- Foy, N., et al.
(författare)
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Recent volume and area changes of Kaskawulsh Glacier, Yukon, Canada
- 2011
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Ingår i: Journal of Glaciology. - : International Glaciological Society. - 0022-1430 .- 1727-5652. ; 57:203, s. 515-525
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Tidskriftsartikel (refereegranskat)abstract
- Recent surface elevation changes of Kaskawulsh Glacier, Yukon, Canada, are quantified by comparing an air-photo derived DEM from 1977 and airborne lidar measurements from 1995, 2000 and 2007. Surface-area changes are assessed using historical aerial photography from 1956 and satellite imagery from 1977 to 2007. Combined, these measurements provide some of the first detailed records of volume change of a large Yukon glacier. Between 1977 and 2007, Kaskawulsh Glacier underwent a decrease in area of 1.53% and a decrease in volume of 3.27–5.94 km3 w.e.). The terminus also retreated by 655 m over the period 1956–2007. There was relatively minor volume change over the period 1977–95 (<+0.01 km3 w.e.a−1), while over the periods 1995–2000 and 2000–07 volume losses occurred at a relatively constant rate of −0.51 and −0.50 km3 a−1 w.e., respectively. Since 1995, thinning has been prominent throughout the ablation zone, while relative stability and even slight thickening has occurred in the accumulation zone. These findings are similar to those recently observed at other nearby Alaskan glaciers.
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| 8. |
- Sundqvist, Elin, et al.
(författare)
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Upscaling of methane exchange in a boreal forest using soil chamber measurements and high-resolution LiDAR elevation data
- 2015
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Ingår i: Agricultural and Forest Meteorology. - : Elsevier BV. - 1873-2240 .- 0168-1923. ; 214, s. 393-401
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Tidskriftsartikel (refereegranskat)abstract
- Forest soils are generally considered to be net sinks of methane (CH4), but CH4 fluxes vary spatially depending on soil conditions. Measuring CH4 exchange with chambers, which are commonly used for this purpose, might not result in representative fluxes at site scale. Appropriate methods for upscaling CH4 fluxes from point measurements to site scale are therefore needed. At the boreal forest research site, Norunda, chamber measurements of soils and vegetation indicate that the site is a net sink of CH4, while tower gradient measurements indicate that the site is a net source of CH4. We investigated the discrepancy between chamber and tower gradient measurements by upscaling soil CH4 exchange to a 100 ha area based on an empirical model derived from chamber measurements of CH4 exchange and measurements of soil moisture, soil temperature and water table depth. A digital elevation model (DEM) derived from high-resolution airborne Light Detection and Ranging (LiDAR) data was used to generate gridded water table depth and soil moisture data of the study area as input data for the upscaling. Despite the simplistic approach, modeled fluxes were significantly correlated to four out of five chambers with R>0.68. The upscaling resulted in a net soil sink of CH4 of -10 mu mol m(-2) h(-1), averaged over the entire study area and time period June-September, 2010). Our findings suggest that additional contributions from CH4 soil sources outside the upscaling study area and possibly CH4 emissions from vegetation could explain the net emissions measured by tower gradient measurements. (C) 2015 Elsevier B.V. All rights reserved.
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