66 research outputs found

    Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study

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    Amplicon-based next-generation sequencing (NGS) of immunoglobulin (IG) and T-cell receptor (TR) gene rearrangements for clonality assessment, marker identification and quantification of minimal residual disease (MRD) in lymphoid neoplasms has been the focus of intense research, development and application. However, standardization and validation in a scientifically controlled multicentre setting is still lacking. Therefore, IG/TR assay development and design, including bioinformatics, was performed within the EuroClonality-NGS working group and validated for MRD marker identification in acute lymphoblastic leukaemia (ALL). Five EuroMRD ALL reference laboratories performed IG/TR NGS in 50 diagnostic ALL samples, and compared results with those generated through routine IG/TR Sanger sequencing. A central polytarget quality control (cPT-QC) was used to monitor primer performance, and a central in-tube quality control (cIT-QC) wa

    The genome-wide dynamics of purging during selfing in maize

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    Self-fertilization (also known as selfing) is an important reproductive strategy in plants and a widely applied tool for plant genetics and plant breeding. Selfing can lead to inbreeding depression by uncovering recessive deleterious variants, unless these variants are purged by selection. Here we investigated the dynamics of purging in a set of eleven maize lines that were selfed for six generations. We show that heterozygous, putatively deleterious single nucleotide polymorphisms are preferentially lost from the genome during selfing. Deleterious single nucleotide polymorphisms were lost more rapidly in regions of high recombination, presumably because recombination increases the efficacy of selection by uncoupling linked variants. Overall, heterozygosity decreased more slowly than expected, by an estimated 35% to 40% per generation instead of the expected 50%, perhaps reflecting pervasive associative overdominance. Finally, three lines exhibited marked decreases in genome size due to the purging of transposable elements. Genome loss was more likely to occur for lineages that began with larger genomes with more transposable elements and chromosomal knobs. These three lines purged an average of 398 Mb from their genomes, an amount equivalent to three Arabidopsis thaliana genomes per lineage, in only a few generations

    Facilitating User-System Interaction: the GAIA Interaction Agent

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    This paper presents the identification, design and implementation of a user interface to a brokerage system and the conceptual architecture and functional behaviour of an intelligent interaction agent that supports and enhances the interaction between the user and the system. The term interaction agent is used in order to describe a particular class of interface agents that function as intelligent personal assistants to users of a computer - based system. The interaction agent provides assistance to the user in two contexts. On the user interface level, it assists users to comprehend and manipulate the user interface. On the domain of application level, it provides users with information and advice according to their preferences. This work is being carried out in the context of an ACTS (AC 221) project GAIA (Generic Architecture for Information Availability)

    Towards Integration of Learning Objects Metadata and Learner Profiles Design: Lessons Learnt from GESTALT

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    Within the context of learning technology environments, there is much effort on one hand, at dening metadata for educational content, and on the other, at specifying learner user proles. However, less attention has been paid to the understanding of the relationship between these two areas of research, in terms of semantic and structural correlations. Based on an implementation of learning object metadata and learner profiles in a learning technology system undertaken in the Getting Education Systems Talking Across Leading Edge Technologies (GESTALT) project, this paper argues that the denition of a metadata schema and a User Profile should be a joint effort due to the complementary nature of these two descriptions in regard to the critical functions of the educational process
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