57,146 research outputs found

    Clinical molecular genetics in the UK c.1975-c.2000

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    seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities. Discussions of molecular research into haemoglobin disorders, and the development of probes for related genes in the 1970s, included particular acknowledgment of Southern blotting as a critical tool for such research. Also noted was a landmark conference in Crete in 1978 that emphasized the special significance of research work on thalassaemia, as well as providing fruitful networking opportunities for scientists from around the world. Similarly, in 1982, a key course at Leiden University introduced molecular techniques to geneticists from across Europe. In that same year the first prenatal diagnosis by chorionic villus sampling was published, and the emotional aspects of such genetic diagnoses for patients, families and clinicians were frequently discussed during the seminar. Other issues, including the funding of research, and especially the role of patient support groups; the establishment and growth of professional interest groups and bodies such as the Clinical Molecular Genetics Society; and the development of national genetics

    Plant breeding for organic farming: current status and problems in Europe

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    Compendium is a part of Deliverable 4 of 6th FP SSA project “Environmental friendly food production system: requirements for plant breeding and seed production” (ENVIRFOOD) and contains information about current status and problems in EU regarding to organic plant breeding

    An integrated molecular and conventional breeding scheme for enhancing genetic gain in maize in Africa

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    Open Access Journal; Published online: 06 Nov 2019Maize production in West and Central Africa (WCA) is constrained by a wide range of interacting stresses that keep productivity below potential yields. Among the many problems afflicting maize production in WCA, drought, foliar diseases, and parasitic weeds are the most critical. Several decades of efforts devoted to the genetic improvement of maize have resulted in remarkable genetic gain, leading to increased yields of maize on farmers’ fields. The revolution unfolding in the areas of genomics, bioinformatics, and phenomics is generating innovative tools, resources, and technologies for transforming crop breeding programs. It is envisaged that such tools will be integrated within maize breeding programs, thereby advancing these programs and addressing current and future challenges. Accordingly, the maize improvement program within International Institute of Tropical Agriculture (IITA) is undergoing a process of modernization through the introduction of innovative tools and new schemes that are expected to enhance genetic gains and impact on smallholder farmers in the region. Genomic tools enable genetic dissections of complex traits and promote an understanding of the physiological basis of key agronomic and nutritional quality traits. Marker-aided selection and genome-wide selection schemes are being implemented to accelerate genetic gain relating to yield, resilience, and nutritional quality. Therefore, strategies that effectively combine genotypic information with data from field phenotyping and laboratory-based analysis are currently being optimized. Molecular breeding, guided by methodically defined product profiles tailored to different agroecological zones and conditions of climate change, supported by state-of-the-art decision-making tools, is pivotal for the advancement of modern, genomics-aided maize improvement programs. Accelerated genetic gain, in turn, catalyzes a faster variety replacement rate. It is critical to forge and strengthen partnerships for enhancing the impacts of breeding products on farmers’ livelihood. IITA has well-established channels for delivering its research products/technologies to partner organizations for further testing, multiplication, and dissemination across various countries within the subregion. Capacity building of national agricultural research system (NARS) will facilitate the smooth transfer of technologies and best practices from IITA and its partners

    Biomedical Informatics Applications for Precision Management of Neurodegenerative Diseases

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    Modern medicine is in the midst of a revolution driven by “big data,” rapidly advancing computing power, and broader integration of technology into healthcare. Highly detailed and individualized profiles of both health and disease states are now possible, including biomarkers, genomic profiles, cognitive and behavioral phenotypes, high-frequency assessments, and medical imaging. Although these data are incredibly complex, they can potentially be used to understand multi-determinant causal relationships, elucidate modifiable factors, and ultimately customize treatments based on individual parameters. Especially for neurodegenerative diseases, where an effective therapeutic agent has yet to be discovered, there remains a critical need for an interdisciplinary perspective on data and information management due to the number of unanswered questions. Biomedical informatics is a multidisciplinary field that falls at the intersection of information technology, computer and data science, engineering, and healthcare that will be instrumental for uncovering novel insights into neurodegenerative disease research, including both causal relationships and therapeutic targets and maximizing the utility of both clinical and research data. The present study aims to provide a brief overview of biomedical informatics and how clinical data applications such as clinical decision support tools can be developed to derive new knowledge from the wealth of available data to advance clinical care and scientific research of neurodegenerative diseases in the era of precision medicine

    ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries

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    This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA's activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors

    A Penalized Multi-trait Mixed Model for Association Mapping in Pedigree-based GWAS

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    In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples. Therefore, penalized linear mixed model is a tool that combines the advantages of penalization approach and linear mixed model. In this study, a GWAS with multiple highly correlated traits is analyzed. For GWAS with multiple quantitative traits that are highly correlated, the analysis using traits marginally inevitably lose some essential information among multiple traits. We propose a penalized-MTMM, a penalized multivariate linear mixed model that allows both the within-trait and between-trait variance components simultaneously for multiple traits. The proposed penalized-MTMM estimates variance components using an AI-REML method and conducts variable selection and point estimation simultaneously using group MCP and sparse group MCP. Best linear unbiased predictor (BLUP) is used to find predictive values and the Pearson's correlations between predictive values and their corresponding observations are used to evaluate prediction performance. Both prediction and selection performance of the proposed approach and its comparison with the uni-trait penalized-LMM are evaluated through simulation studies. We apply the proposed approach to a GWAS data from Genetic Analysis Workshop (GAW) 18
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