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The massive research effort known as the Human Genome Project is an attempt to record the sequence of the three trillion nucleotides that make up the human genome and to identify individual genes within this sequence. While the basic effort is of course a biological one, the description and classification of sequences also lend themselves naturally to mathematical and statistical modeling. This short textbook on the mathematics of genome analysis presents a brief description of several ways in which mathematics and statistics are being used in genome analysis and sequencing. It will be of interest not only to students but also to professional mathematicians curious about the subject.
This short textbook on the mathematics of genome analysis presents a brief description of several ways in which mathematics and statistics are being used in genome analysis and sequencing. It will be of interest not only to students but also to professional mathematicians curious about the subject.
The massive research effort known as the Human Genome Project is an attempt to record the sequence of the three trillion nucleotides that make up the human genome and to identify individual genes within this sequence. The description and classification of sequences is heavily dependent on mathematical and statistical models. This short textbook presents a brief description of several ways in which mathematics and statistics are being used in genome analysis and sequencing.
This book presents the foundations of key problems in computational molecular biology and bioinformatics. It focuses on computational and statistical principles applied to genomes, and introduces the mathematics and statistics that are crucial for understanding these applications. The book features a free download of the R software statistics package and the text provides great crossover material that is interesting and accessible to students in biology, mathematics, statistics and computer science. More than 100 illustrations and diagrams reinforce concepts and present key results from the primary literature. Exercises are given at the end of chapters.
Exome and genome sequencing are revolutionizing medical research and diagnostics, but the computational analysis of the data has become an extremely heterogeneous and often challenging area of bioinformatics. Computational Exome and Genome Analysis provides a practical introduction to all of the major areas in the field, enabling readers to develop a comprehensive understanding of the sequencing process and the entire computational analysis pipeline.
Geneticists now stand on the threshold of sequencing the genome in its entirety. The unprecedented insights into human disease and evolution offered by mapping and sequencing are transforming medicine and agriculture. This revolution depends vitally on the contributions made by applied mathematicians, statisticians, and computer scientists. Kenneth Lange has written a book to enable graduate students in the mathematical sciences to understand and model the epidemiological and experimental data encountered in genetics research. Mathematical, statistical, and computational principles relevant to this task are developed hand-in-hand with applications to gene mapping, risk prediction, and the testing of epidemiological hypotheses. The book covers many topics previously only accessible in journal articles, such as pedigree analysis algorithms, Markov chain, Monte Carlo methods, reconstruction of evolutionary trees, radiation hybrid mapping, and models of recombination. The whole is backed by numerous exercise sets.
Written to equip students in the mathematical siences to understand and model the epidemiological and experimental data encountered in genetics research. This second edition expands the original edition by over 100 pages and includes new material. Sprinkled throughout the chapters are many new problems.
The book presents a conceptual and methodological basis for the mathematical and computational analysis of genomes. Genomes are containers of biological information, which direct the cell functions and the evolution of organisms. Combinatorial, probabilistic, and informational aspects are fundamental ingredients of any mathematical investigation of genomes aimed at providing mathematical principles for extracting the information that they contain. The topics presented in the book include research themes developed by authors in the last 15 years, and in many aspects, the book continues a preceding volume (Vincenzo Manca, Infobiotics: Information in biotic systems, Springer, 2013). The main inspiring idea of the book is an informational perspective to Genomics. Information is the most recent, among the fundamental mathematical and physical concepts developed in the last two centuries. It has revolutionized the whole science and continues, in this direction, to dominate the trends of the contemporary science. In fact, any discipline collects data from observations, by providing theories able to explain, predict, and dominate natural phenomena. But data are containers of information, whence information is essential in any scientific elaboration. Many open problems in deciphering genomes will be addressed, by showing an informational approach to the discovery of “genome languages”, according to which genomic texts are written. Life strategies, at many levels of organization, are encoded in these texts, and randomness has a crucial role in the birth and in the development of biological information, where the interplay of casualty and computation is probably the most secret key of life intelligence.
This volume focuses on contributions from both the mathematics and life science community surrounding the concepts of time and dynamicity of nature, two significant elements which are often overlooked in modeling process to avoid exponential computations. The book is divided into three distinct parts: dynamics of genomes and genetic variation, dynamics of motifs, and dynamics of biological networks. Chapters included in dynamics of genomes and genetic variation analyze the molecular mechanisms and evolutionary processes that shape the structure and function of genomes and those that govern genome dynamics. The dynamics of motifs portion of the volume provides an overview of current methods for motif searching in DNA, RNA and proteins, a key process to discover emergent properties of cells, tissues, and organisms. The part devoted to the dynamics of biological networks covers networks aptly discusses networks in complex biological functions and activities that interpret processes in cells. Moreover, chapters in this section examine several mathematical models and algorithms available for integration, analysis, and characterization. Once life scientists began to produce experimental data at an unprecedented pace, it become clear that mathematical models were necessary to interpret data, to structure information with the aim to unveil biological mechanisms, discover results, and make predictions. The second annual “Bringing Maths to Life” workshop held in Naples, Italy October 2015, enabled a bi-directional flow of ideas from and international group of mathematicians and biologists. The venue allowed mathematicians to introduce novel algorithms, methods, and software that may be useful to model aspects of life science, and life scientists posed new challenges for mathematicians.
Novel Techniques for Analyzing and Combining Data from Modern Biological Studies Broadens the Traditional Definition of Meta-Analysis With the diversity of data and meta-data now available, there is increased interest in analyzing multiple studies beyond statistical approaches of formal meta-analysis. Covering an extensive range of quantitative information combination methods, Meta-analysis and Combining Information in Genetics and Genomics looks at how to analyze multiple studies from a broad perspective. After presenting the basic ideas and tools of meta-analysis, the book addresses the combination of similar data types: genotype data from genome-wide linkage scans and data derived from microarray gene expression experiments. The expert contributors show how some data combination problems can arise even within the same basic framework and offer solutions to these problems. They also discuss the combined analysis of different data types, giving readers an opportunity to see data combination approaches in action across a wide variety of genome-scale investigations. As heterogeneous data sets become more common, biological understanding will be significantly aided by jointly analyzing such data using fundamentally sound statistical methodology. This book provides many novel techniques for analyzing data from modern biological studies that involve multiple data sets, either of the same type or multiple data sources.