Search Results - "Robinson, Peter"
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Enzymes: principles and biotechnological applications
Published in Essays in biochemistry (01-01-2015)“…Enzymes are biological catalysts (also known as biocatalysts) that speed up biochemical reactions in living organisms, and which can be extracted from cells…”
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Deep phenotyping for precision medicine
Published in Human mutation (01-05-2012)“…In medical contexts, the word “phenotype” is used to refer to some deviation from normal morphology, physiology, or behavior. The analysis of phenotype plays a…”
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Phenolyzer: phenotype-based prioritization of candidate genes for human diseases
Published in Nature methods (01-09-2015)“…The Phenolyzer software provides prioritized candidate gene lists based on disease and phenotype terms that are entered by users as free text. Prior biological…”
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Task-Based Language Learning: A Review of Issues
Published in Language learning (01-06-2011)“…Theoretically motivated, empirical research into task‐based language learning has been prompted by proposals for task‐based language teaching. In this review I…”
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Classification, Ontology, and Precision Medicine
Published in The New England journal of medicine (11-10-2018)“…Data-organizing methods have been in place for centuries, but very large data sets have come into being relatively recently. The authors describe…”
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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Published in American journal of human genetics (01-09-2016)“…The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially…”
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FABIAN-variant: predicting the effects of DNA variants on transcription factor binding
Published in Nucleic acids research (05-07-2022)“…Abstract While great advances in predicting the effects of coding variants have been made, the assessment of non-coding variants remains challenging. This is…”
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Long-Range Dependent Curve Time Series
Published in Journal of the American Statistical Association (02-04-2020)“…We introduce methods and theory for functional or curve time series with long-range dependence. The temporal sum of the curve process is shown to be…”
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The dynamic brain: from spiking neurons to neural masses and cortical fields
Published in PLoS computational biology (01-08-2008)“…The cortex is a complex system, characterized by its dynamics and architecture, which underlie many functions such as action, perception, learning, language,…”
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Phenotype ontologies and cross-species analysis for translational research
Published in PLoS genetics (01-04-2014)“…The use of model organisms as tools for the investigation of human genetic variation has significantly and rapidly advanced our understanding of the…”
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Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers
Published in Nucleic acids research (04-06-2020)“…The temporal and spatial expression of genes is controlled by promoters and enhancers. Findings obtained over the last decade that not only promoters but also…”
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Geometric constraints on human brain function
Published in Nature (London) (15-06-2023)“…The anatomy of the brain necessarily constrains its function, but precisely how remains unclear. The classical and dominant paradigm in neuroscience is that…”
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Deep phenotyping: symptom annotation made simple with SAMS
Published in Nucleic acids research (05-07-2022)“…Abstract Precision medicine needs precise phenotypes. The Human Phenotype Ontology (HPO) uses clinical signs instead of diagnoses and has become the standard…”
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The Human Phenotype Ontology in 2021
Published in Nucleic acids research (08-01-2021)“…Abstract The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and…”
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Computing Minimal Boolean Models of Gene Regulatory Networks
Published in Journal of computational biology (01-02-2024)“…Models of gene regulatory networks (GRNs) capture the dynamics of the regulatory processes that occur within the cell as a means to understanding the…”
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Inference on higher-order spatial autoregressive models with increasingly many parameters
Published in Journal of econometrics (01-05-2015)“…This paper develops consistency and asymptotic normality of parameter estimates for a higher-order spatial autoregressive model whose order, and number of…”
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Biometric and structural ocular manifestations of Marfan syndrome
Published in PloS one (20-09-2017)“…To study biometric and structural ocular manifestations of Marfan syndrome (MFS). Observational, retrospective, comparative cohort study in a tertiary referral…”
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Higher-order least squares inference for spatial autoregressions
Published in Journal of econometrics (01-01-2023)“…We develop refined inference for spatial regression models with predetermined regressors. The ordinary least squares estimate of the spatial parameter is…”
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Insights into the complementarity of natural disaster insurance purchases and risk reduction behavior
Published in Risk analysis (01-01-2024)“…While flooding is the costliest natural disaster risk, public‐sector investments provide incomplete protection. Moreover, individuals are in general reluctant…”
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L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes
Published in Nucleic acids research (04-01-2017)“…LINE-1 (L1) insertions comprise as much as 17% of the human genome sequence, and similar proportions have been recorded for other mammalian species. Given the…”
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