56 research outputs found
Picture this: researching child workers
Visual methods such as photography are under-used in the active process of sociological research. As rare as visual methods are, it is even rarer for the resultant images to be made by rather than of research participants. Primarily, the paper explores the challenges and contradictions of using photography within a multi-method approach. We consider processes for analysing visual data, different ways of utilising visual methods in sociological research, and the use of primary and secondary data, or, simple illustration versus active visual exploration of the social. The question of triangulation of visual data against text and testimony versus a stand-alone approach is explored in depth
ISC (Integrated Spacecraft Computer) Case Study of a Proven, Viable Approach to Using COTS in Spaceborne Computer Systems
By judiciously using COTS technology a new space computer product that has lower cost, higher performance, is easy to use and retains the high reliability necessary for use in spaceborne missions was developed. Modern COTS processors and memories are used with a mixture of military and radhard components to meet the unique thermal-mechanical environment and radiation environment of space and still satisfy the need for highreliability, low power consumption and low weight
Newfoundland Neogene sediment drifts: transition from the Paleogene greenhouse to the modern icehouse
This workshop brought together specialists from various fields to develop a drilling proposal to fill the "Oligo-Miocene Gap" that exists in our understanding of the functions of Earth's systems. We propose to establish the first continuous high-deposition record of the Oligo-Miocene through new International Ocean Discovery Program (IODP) drilling in the North Atlantic to allow the development of a continuous Neogene cyclostratigraphy and to enhance our knowledge of Oligo-Miocene ocean–ice–climate dynamics. The workshop was held in Heidelberg from 15 to 17 September 2014 funded by ESF (EARTHTIME EU), NSF, and the ECORD MagellanPlus Workshop Series Program. A total of 24 participants from six different countries (Australia, France, Germany, the Netherlands, United Kingdom, and United States) attended the workshop, including several early career stage researchers. We discussed certain aspects of Cenozoic paleoceanography and paleoclimate and how the gaps in the Oligo-Miocene could be filled using scientific drilling. The ultimate goal of the workshop (to submit a pre-proposal to IODP) was achieved (IODP Proposal 874-pre was submitted 1 October 2014). Our workshop consisted of overview presentations followed by self-selected breakout groups that discussed different topics and produced text and figures for the proposal. Here, we give a short overview of the major topics discussed during the workshop and the scientific goals presented in the resulting IODP pre-proposal
Strong gravitational lensing probes of the particle nature of dark matter
There is a vast menagerie of plausible candidates for the constituents of
dark matter, both within and beyond extensions of the Standard Model of
particle physics. Each of these candidates may have scattering (and other)
cross section properties that are consistent with the dark matter abundance,
BBN, and the most scales in the matter power spectrum; but which may have
vastly different behavior at sub-galactic "cutoff" scales, below which dark
matter density fluctuations are smoothed out. The only way to quantitatively
measure the power spectrum behavior at sub-galactic scales at distances beyond
the local universe, and indeed over cosmic time, is through probes available in
multiply imaged strong gravitational lenses. Gravitational potential
perturbations by dark matter substructure encode information in the observed
relative magnifications, positions, and time delays in a strong lens. Each of
these is sensitive to a different moment of the substructure mass function and
to different effective mass ranges of the substructure. The time delay
perturbations, in particular, are proving to be largely immune to the
degeneracies and systematic uncertainties that have impacted exploitation of
strong lenses for such studies. There is great potential for a coordinated
theoretical and observational effort to enable a sophisticated exploitation of
strong gravitational lenses as direct probes of dark matter properties. This
opportunity motivates this white paper, and drives the need for: a) strong
support of the theoretical work necessary to understand all astrophysical
consequences for different dark matter candidates; and b) tailored
observational campaigns, and even a fully dedicated mission, to obtain the
requisite data.Comment: Science white paper submitted to the Astro2010 Decadal Cosmology &
Fundamental Physics Science Frontier Pane
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-011-1094-6) contains supplementary material, which is available to authorized users
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation accuracy at rare and low-frequency variants in both a UK and an Italian population. We show that large increases in imputation accuracy can be achieved by re-phasing WGS reference panels after initial genotype calling. We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. Finally, we introduce a novel approximation that maintains speed without sacrificing imputation accuracy for rare variants
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data
- …