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The sequencing of the human genome has brought human genetics into a new era of study resulting in the generation of an explosive amount of information. Application of genomic, proteomic, and bioinformatics technologies to the study of human genetics has made it possible for human genetic diseases to be studied on an unprecedented scale, both in silico and in the wet lab. This volume provides up-to-date coverage of the broad range of research topics in this fascinating area. In the first part of the book, a whole spectrum of approaches to human genetics research is reviewed for both background and the latest progress. In the second, important topics related to genetic research of various complex human diseases are discussed. The robust content and diverse array of subjects allow the book to serve as both a concise “encyclopedia” that introduces basic and essential concepts of human genetics and an in-depth review of the current understanding of genetic research in human diseases.
Introduction and basic genetic principles; Genetic loci genetic polymorphisms; Aspects of statistical inference; Basics of linkage analysis; The informativeness of family data; Multipoint linkage analysis; Penetrance; Quantitative phenotypes; Numerical and computerized methods; Variability of the recombination fraction; Inconsistencies; Linkage analysis with mendelian disease loci; Nonparametric methods; Two-locus inheritance; Complex traits.
A collection of highly valuable statistical and computational approaches designed for developing powerful methods to analyze large-scale high-throughput data derived from studies of complex diseases. Such diseases include cancer and cardiovascular disease, and constitute the major health challenges in industrialized countries. They are characterized by the systems properties of gene networks and their interrelations, instead of individual genes, whose malfunctioning manifests in pathological phenotypes, thus making the analysis of the resulting large data sets particularly challenging. This is why novel approaches are needed to tackle this problem efficiently on a systems level. Written by computational biologists and biostatisticians, this book is an invaluable resource for a large number of researchers working on basic but also applied aspects of biomedical data analysis emphasizing the pathway level.
This book presents a range of current research topics in biological network modeling, as well as its application in studies on human hosts, pathogens, and diseases. Systems biology is a rapidly expanding field that involves the study of biological systems through the mathematical modeling and analysis of large volumes of biological data. Gathering contributions from renowned experts in the field, some of the topics discussed in depth here include networks in systems biology, the computational modeling of multidrug-resistant bacteria, and systems biology of cancer. Given its scope, the book is intended for researchers, advanced students, and practitioners of systems biology. The chapters are research-oriented, and present some of the latest findings on their respective topics.