Genetic Technologies and Causal Variant Discovery
The widespread availability of next-generation sequencing (NGS) has transformed our understanding of human genetic variation and its impact on human health. This chapter describes the most common DNA sequencing technologies available to research and clini
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John J. Hutton Editor
Pediatric Biomedical Informatics Computer Applications in Pediatric Research Second Edition
Translational Bioinformatics Volume 10 Series editor Xiangdong Wang, MD, Ph.D. Professor of Medicine, Executive Director of Zhongshan Hospital Institute of Clinical Science, Fudan University Shanghai Medical College, Shanghai, China Director of Shanghai Institute of Clinical Bioinformatics, (www.fuccb.org)
Aims and Scope The Book Series in Translational Bioinformatics is a powerful and integrative resource for understanding and translating discoveries and advances of genomic, transcriptomic, proteomic and bioinformatic technologies into the study of human diseases. The Series represents leading global opinions on the translation of bioinformatics sciences into both the clinical setting and descriptions to medical informatics. It presents the critical evidence to further understand the molecular mechanisms underlying organ or cell dysfunctions in human diseases, the results of genomic, transcriptomic, proteomic and bioinformatic studies from human tissues dedicated to the discovery and validation of diagnostic and prognostic disease biomarkers, essential information on the identification and validation of novel drug targets and the application of tissue genomics, transcriptomics, proteomics and bioinformatics in drug efficacy and toxicity in clinical research. The Book Series in Translational Bioinformatics focuses on outstanding articles/chapters presenting significant recent works in genomic, transcriptomic, proteomic and bioinformatic profiles related to human organ or cell dysfunctions and clinical findings. The Series includes bioinformatics-driven molecular and cellular disease mechanisms, the understanding of human diseases and the improvement of patient prognoses. Additionally, it provides practical and useful study insights into and protocols of design and methodology. Series Description Translational bioinformatics is defined as the development of storage-related, analytic, and interpretive methods to optimize the transformation of increasingly voluminous biomedical data, and genomic data in particular, into proactive, predictive, preventive, and participatory health. Translational bioinformatics includes research on the development of novel techniques for the integration of biological and clinical data and the evolution of clinical informatics methodology to encompass biological observations. The end product of translational bioinformatics is the newly found knowledge from these integrative efforts that can be disseminated to a variety of stakeholders including biomedical scientists, clinicians, and patients. Issues related to database management, administration, or policy will be coordinated through the clinical research informatics domain. Analytic, storage-related, and interpretive methods should be used to improve predictions, early diagnostics, severity monitoring, therapeutic effects, and the prognosis of human diseases. Recently Published and Forthcoming Volumes Genomics and Proteomics f
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