Peter Saffrey

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Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity. Hence, an immense unmet need exists for improved(More)
It has recently been shown that nucleosome distribution, histone modifications and RNA polymerase II (Pol II) occupancy show preferential association with exons ("exon-intron marking"), linking chromatin structure and function to co-transcriptional splicing in a variety of eukaryotes. Previous ChIP-sequencing studies suggested that these marking patterns(More)
Introductory programming classes are renowned for their high dropout rates. The authors propose that this is because students learn to adopt a <i>fixed mindset</i> towards programming. This paper reports on a study carried out with an introductory programming class, based on Dweck's mindset research. Combinations of three interventions were carried out:(More)
The design of automatic layout algorithms for single graphs is a well established field, and some recent studies show how these algorithms affect human understanding. By contrast, layout algorithms for graphs that change over time are relatively immature, and few studies exist to evaluate their effectiveness empirically. This paper presents two new dynamic(More)
Mathematical and computational modelling are emerging as important techniques for studying the behaviour of complex biological systems. We argue that two advances are necessary to properly leverage these techniques: firstly, the ability to integrate models developed and executed on separate tools, without the need for substantial translation and secondly, a(More)
A computational model of the glucagon/insulin-driven liver glucohomeostasis function, focusing on the buffering of glucose into glycogen, has been developed. The model exemplifies an 'engineering' approach to modelling in systems biology, and was produced by linking together seven component models of separate aspects of the physiology. The component models(More)
A major obstacle to curing chronic myeloid leukemia (CML) is residual disease maintained by tyrosine kinase inhibitor (TKI)-persistent leukemic stem cells (LSC). These are BCR-ABL1 kinase independent, refractory to apoptosis, and serve as a reservoir to drive relapse or TKI resistance. We demonstrate that Polycomb Repressive Complex 2 is misregulated in(More)
When modelling complex biological systems it is often desirable to combine a number of distinct sub-models to form a larger composite model. We describe an XML based language that can be used to specify composite models and a lightweight computational framework that executes these models. The language supports specification of structure and implementation(More)