29 research outputs found

    Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

    Get PDF
    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

    Energy from Humid Air

    No full text

    Opportunities for better phosphorus use in agriculture

    No full text
    Low phosphorus use efficiency (~20%) and high phosphorus losses from agricultural land to waterbodies is a growing global problem and exacerbated by climate change and rainfall extremes. Fertiliser use can be optimised and should consider all nutrients. Widespread soil phosphorus testing is required. In some regions appropriate control limits on phosphorus inputs will be needed, whilst in others an increase in P inputs will be required to improve/maintain agricultural productivity. An integrated approach to improve phosphorus use efficiency, reduce losses and increase recycling throughout the food production and consumption chain is needed. A multi-stakeholder approach will, therefore, be critical

    Upstream stimulating factors: highly versatile stress-responsive transcription factors

    No full text
    International audienceUpstream stimulating factors (USF), USF-1 and USF-2, are members of the eucaryotic evolutionary conserved basic-Helix-Loop-Helix-Leucine Zipper transcription factor family. They interact with high affinity to cognate E-box regulatory elements (CANNTG), which are largely represented across the whole genome in eucaryotes. The ubiquitously expressed USF-transcription factors participate in distinct transcriptional processes, mediating recruitment of chromatin remodelling enzymes and interacting with co-activators and members of the transcription pre-initiation complex. Results obtained from both cell lines and knock-out mice indicates that USF factors are key regulators of a wide number of gene regulation networks, including the stress and immune responses, cell cycle and proliferation, lipid and glucid metabolism, and in melanocytes USF-1 has been implicated as a key UV-activated regulator of genes associated with pigmentation. This review will focus on general characteristics of the USF-transcription factors and their place in some regulatory networks
    corecore