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Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and assessed the frequency of the identified somatic mutations in 94 T-cell acute lymphoblastic leukaemia cases. ETP ALL was characterized by activating mutations in genes regulating(More)
We determined the accuracy and precision of 33 objective methods for predicting the results of conventional, sphero-cylindrical refraction from wavefront aberrations in a large population of 200 eyes. Accuracy for predicting defocus (as specified by the population mean error of prediction) varied from -0.50 D to +0.25 D across methods. Precision of these(More)
Retinoblastoma is an aggressive childhood cancer of the developing retina that is initiated by the biallelic loss of RB1. Tumours progress very quickly following RB1 inactivation but the underlying mechanism is not known. Here we show that the retinoblastoma genome is stable, but that multiple cancer pathways can be epigenetically deregulated. To identify(More)
Most research concerning the evolution of introns has largely considered introns within coding sequences (CDSs), without regard for introns located within untranslated regions (UTRs) of genes. Here, we directly determined intron size, abundance, and distribution in UTRs of genes using full-length cDNA libraries and complete genome sequences for four(More)
Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. Here, to identify mutations that drive medulloblastoma, we sequenced the entire genomes of 37 tumours and matched normal blood. One-hundred and thirty-six genes harbouring somatic mutations in this discovery set were sequenced in an additional 56 medulloblastomas.(More)
microRNAs comprise a few percent of animal genes and have been recognized as important regulators of a diverse range of biological processes. Understanding the biological functions of miRNAs requires effective means to identify their targets. Combined efforts from computational prediction, miRNA over-expression or depletion, and biochemical purification(More)
Comparison of high angular resolution diffusion imaging (HARDI) measurements between subjects or between timepoints for the same subject are facilitated by spatial normalization. In this work an algorithm was developed to transform the fiber orientation distribution (FOD) function, based on HARDI data, taking into account not only translation, but also(More)
Cancer genomes accumulate numerous genetic and epigenetic modifications. Yet, human cellular transformation can be accomplished by a few genetically defined elements. These elements activate key pathways required to support replicative immortality and anchorage independent growth, a predictor of tumorigenesis in vivo. Here, we provide evidence that the(More)
In this paper we present a new event recognition framework, based on the Dempster-Shafer theory of evidence, which combines the evidence from multiple atomic events detected by low-level computer vision analytics. The proposed framework employs evidential network modelling of composite events. This approach can effectively handle the uncertainty of the(More)