46 research outputs found
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each chromosome. We then phase the sequence data 'onto' this haplotype scaffold. This approach can take advantage of relatedness between sequenced and non-sequenced samples to improve accuracy. We use this method to create a new 1000GP haplotype reference set for use by the human genetic community. Using a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have lower genotype discordance and improved imputation performance into downstream GWAS samples, especially at low-frequency variants. © 2014 Macmillan Publishers Limited. All rights reserved
TRY plant trait database â enhanced coverage and open access
Plant traitsâthe morphological, anatomical, physiological, biochemical and phenological characteristics of plantsâdetermine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of traitâbased plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traitsâalmost complete coverage for âplant growth formâ. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and traitâenvironmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives
Three-dimensional mapping of light transmittance and foliage distribution using lidar
The horizontal and vertical distributions of light transmittance were evaluated as a function of foliage distribution using lidar (light detection and ranging) observations for a sugar maple (Acer saccharum) stand in the Turkey Lakes Watershed. Along the vertical profile of vegetation, horizontal slices of probability of light transmittance were derived from an Optech ALTM 1225 instrument's return pulses (two discrete, 15-cm diameter returns) using indicator kriging. These predictions were compared with (i) below canopy (1-cm spatial resolution) transect measurements of the fraction of photosynthetically active radiation (FPAR) and (ii) measurements of tree height. A first-order trend was initially removed from the lidar returns. The vertical distribution of vegetation height was then sliced into nine percentiles and indicator variograms were fitted to them. Variogram parameters were found to vary as a function of foliage height above ground. In this paper, we show that the relationship between ground measurements of FPAR and kriged estimates of vegetation cover becomes stronger and tighter at coarser spatial resolutions. Three-dimensional maps of foliage distribution were computed as stacks of the percentile probability surfaces. These probability surfaces showed correspondence with individual tree-based observations and provided a much more detailed characterization of quasi-continuous foliage distribution. These results suggest that discrete-return lidar provides a promising technology to capture variations of foliage characteristics in forests to support the development of functional linkages between biophysical and ecological studies