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 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.

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.

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.

This seminal, multidisciplinary book shows how mathematics can be used to study the first principles of DNA. Most importantly, it enriches the so-called “Chargaff’s grammar of biology” by providing the conceptual theoretical framework necessary to generalize Chargaff’s rules. Starting with a simple example of DNA mathematical modeling where human nucleotide frequencies are associated to the Fibonacci sequence and the Golden Ratio through an optimization problem, its breakthrough is showing that the reverse, complement and reverse-complement operators defined over oligonucleotides induce a natural set partition of DNA words of fixed-size. These equivalence classes, when organized into a matrix form, reveal hidden patterns within the DNA sequence of every living organism. Intended for undergraduate and graduate students both in mathematics and in life sciences, it is also a valuable resource for researchers interested in studying invariant genomic properties.

Genomic signal processing (GSP) can be defined as the analysis, processing, and use of genomic signals to gain biological knowledge, and the translation of that knowledge into systems-based applications that can be used to diagnose and treat genetic diseases. Situated at the crossroads of engineering, biology, mathematics, statistics, and computer science, GSP requires the development of both nonlinear dynamical models that adequately represent genomic regulation, and diagnostic and therapeutic tools based on these models. This book facilitates these developments by providing rigorous mathematical definitions and propositions for the main elements of GSP and by paying attention to the validity of models relative to the data. Ilya Shmulevich and Edward Dougherty cover real-world situations and explain their mathematical modeling in relation to systems biology and systems medicine. Genomic Signal Processing makes a major contribution to computational biology, systems biology, and translational genomics by providing a self-contained explanation of the fundamental mathematical issues facing researchers in four areas: classification, clustering, network modeling, and network intervention.

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.