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排序方式: 共有6162条查询结果,搜索用时 31 毫秒
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Emily Olfson Catherine E. Cottrell Nicholas O. Davidson Christina A. Gurnett Jonathan W. Heusel Nathan O. Stitziel Li-Shiun Chen Sarah Hartz Rakesh Nagarajan Nancy L. Saccone Laura J. Bierut 《PloS one》2015,10(9)
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample. Candidate variants in the 56 ACMG genes were selected from Phase 1 of the 1000 Genomes dataset, which contains sequencing information on 1,092 unrelated individuals from across the world. These variants were filtered using the Human Gene Mutation Database (HGMD) Professional version and defined parameters, appraised through literature review, and examined by a clinical laboratory specialist and expert physician. Over 70,000 genetic variants were extracted from the 56 genes, and filtering identified 237 variants annotated as disease causing by HGMD Professional. Literature review and expert evaluation determined that 7 of these variants were pathogenic or likely pathogenic. Furthermore, 5 additional truncating variants not listed as disease causing in HGMD Professional were identified as likely pathogenic. These 12 secondary findings are associated with diseases that could inform medical follow-up, including cancer predisposition syndromes, cardiac conditions, and familial hypercholesterolemia. The majority of the identified medically actionable findings were in individuals from the European (5/379) and Americas (4/181) ancestry groups, with fewer findings in Asian (2/286) and African (1/246) ancestry groups. Our results suggest that medically relevant secondary findings can be identified in approximately 1% (12/1092) of individuals in a diverse reference sample. As clinical sequencing laboratories continue to implement the ACMG recommendations, our results highlight that at least a small number of potentially important secondary findings can be selected for return. Our results also confirm that understudied populations will not reap proportionate benefits of genomic medicine, highlighting the need for continued research efforts on genetic diseases in these populations. 相似文献
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Ernest I. Onyishi Piotr Sorokowski Agnieszka Sorokowska R. Nathan Pipitone 《Evolution and human behavior》2012,33(6):771-774
Previous research has demonstrated that having more children decreases marital satisfaction among parents. However, the universality of these findings is limited since the vast majority of the studies have been conducted in Western countries. In the present study, 374 people from the Igbo ethnic group (Nigeria) were assessed for levels of marital satisfaction and the number of children. In contrast to almost all previous findings, we found a positive relationship between the number of children and marital satisfaction among parents. Number of children was the strongest predictor of marital satisfaction even when compared to other variables like wealth and education. Our results suggest that the negative relationship between the number of children and marital satisfaction is not culturally universal and probably only characterizes developed, individualistic Western countries. We discuss our findings from a sociocultural and evolutionary perspective. 相似文献
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T. R. Shankar Raman 《Journal of biosciences》1997,22(2):203-218
Chital or axis deer (Axis axis) form fluid groups that change in size temporally and in relation to habitat. Predictions of hypotheses relating animal density,
rainfall, habitat structure, and breeding seasonality, to changes in chital group size were assessed simultaneously using
multiple regression models of monthly data collected over a 2 yr period in Guindy National Park, in southern India. Over 2,700
detections of chital groups were made during four seasons in three habitats (forest, scrubland and grassland). In scrubland
and grassland, chital group size was positively related to animal density, which increased with rainfall. This suggests that
in these habitats, chital density increases in relation to food availability, and group sizes increase due to higher encounter
rate and fusion of groups. The density of chital in forest was inversely related to rainfall, but positively to the number
of fruiting tree species and availability of fallen litter, their forage in this habitat. There was little change in mean
group size in the forest, although chital density more than doubled during the dry season and summer. Dispersion of food items
or the closed nature of the forest may preclude formation of larger groups. At low densities, group sizes in all three habitats
were similar. Group sizes increased with chital density in scrubland and grassland, but more rapidly in the latter—leading
to a positive relationship between openness and mean group size at higher densities. It is not clear, however, that this relationship
is solely because of the influence of habitat structure. The rutting index (monthly percentage of adult males in hard antler)
was positively related to mean group size in forest and scrubland, probably reflecting the increase in group size due to solitary
males joining with females during the rut. The fission-fusion system of group formation in chital is thus interactively influenced
by several factors. Aspects that need further study, such as interannual variability, are highlighted. 相似文献
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Eva Decru Nathan Vranken Pedro H. N. Bragança Jos Snoeks Maarten Van Steenberge 《Journal of fish biology》2020,96(5):1186-1201
Based on literature, museum collections and three recent expeditions, an annotated species list of the Lake Edward, East Africa, drainage system is presented, excluding the endemic haplochromines. A total of 34 non-Haplochromis species belonging to 10 families and 21 genera are recorded from the system. Three of these are endemic and two others have been introduced in the region. Six species are new records for the Lake Edward system. A species accumulation curve indicates that we probably covered most of the non-Haplochromis species in the area sampled during the recent expeditions, but undetected species might still be present in the Congolese part of the system, which is poorly sampled. A comparison of the species list with those of neighbouring basins confirmed the placement of the Lake Edward system within the east-coast ichthyofaunal province. 相似文献
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Adaptation to hypoxia, defined as a condition of inadequate oxygen supply, has enabled humans to successfully colonize high altitude regions. The mechanisms attempted by organisms to cope with short-term hypoxia include increased ATP production via anaerobic respiration and stabilization of Hypoxia Inducible Factor 1α (HIF-1α). However, less is known about the means through which populations adapt to chronic hypoxia during the process of development within a life time or over generations. Here we show that signaling via the highly conserved Wnt pathway impacts the ability of Drosophila melanogaster to complete its life cycle under hypoxia. We identify this pathway through analyses of genome sequencing and gene expression of a Drosophila melanogaster population adapted over >180 generations to tolerate a concentration of 3.5–4% O2 in air. We then show that genetic activation of the Wnt canonical pathway leads to increased rates of adult eclosion in low O2. Our results indicate that a previously unsuspected major developmental pathway, Wnt, plays a significant role in hypoxia tolerance. 相似文献
10.
Nathan Downs Alfio Parisi Joanna Turner David Turnbull 《Photochemical & photobiological sciences》2008,7(6):700-710
A technique has been developed to represent erythemally effective ultraviolet radiation exposure within a school environment. The technique models the erythemally effective exposure onto a horizontal plane representation of a mapped school environment located in Hervey Bay (25 degrees S, 153 degrees E), Australia. The input parameters used to model the ultraviolet exposures received within the school playground included the measured sky view, ground albedo and standing surface albedo. Estimates of the erythemally effective ultraviolet exposure received within the school playground during morning tea and lunch time meal breaks during a winter and summer school day are presented. The influence of tree shade and building structure was found to vary significantly with solar zenith angle modelled over the winter and summer school meal break times with horizontal plane exposures predicted to vary from between 0 and 7 SED at different locations within the playground. The technique presented provides a method that can be followed to examine the effect of surrounding buildings and surface structures of real environments on the predicted horizontal plane ultraviolet exposure. 相似文献