This book provides an exceptionally friendly introduction to Perl that emphasizes good programming practices with repeated exposure to pattern matching as applied to biological sequence analysis (DNA analysis, Protein analysis). The full-length book is appropriate for postgraduates in either computer science or biology and especially relevant to new interdisciplinary courses involving students from multiple disciplines.

This book constitutes the refereed proceedings of the 4th RECOMB Comparative Genomics Satellite Workshop, RECOMB-CG 2006. The 17 revised full papers presented were carefully reviewed and selected from 34 initial submissions. The papers address a broad variety of aspects and components of the field of comparative genomics, ranging from new quantitative discoveries about genome structure and process to theorems on the complexity of computational problems inspired by genome comparison.

This book presents Perl programming with a uniquely interdisciplinary perspective for the bioinformatics classroom. The co-authors are a professor of computer science and a professor of biology who collaborate in developing software for DNA sequence analysis. A specialty of the authors is encouraging interdisciplinary undergraduate research. The book has been tested in the classroom as a text for both biology and computer science majors. Benefiting from years of teaching experience in both computer science and biology, the authors use an exceptionally friendly and pedagogically sound introduction to Perl that emphasizes good programming practices throughout. Concepts include a rich introduction to working with strings and files of sequence data, control structures, subroutines, and data structures (e.g., arrays and hash tables). A particularly unique feature of the text is the early and repeated exposure to and use of regular expressions in sequence analysis. All examples in the book are applied to biological sequence analysis (DNA analysis, Protein analysis). The full-length book is appropriate for majors in either computer science or biology and especially relevant for new interdisciplinary courses involving students from multiple disciplines.

In its short but active history, the use of DNA typing has revolutionized criminal investigations. It is almost inconceivable to bring a case to trial without positive identification through what is now our most accurate means. Proficiency with the methodology, principles, and interpretation of DNA evidence is crucial for today's criminalist. An introductory text, Forensic DNA Analysis: A Laboratory Manual presents a contextual history and overview of the science and use of DNA typing. Logically organized, with clear, concise language, this manual provides a fundamental understanding of forensic DNA analysis and a thorough background in the molecular techniques used to determine an individual's identity. Students are provided with a sound working knowledge of the investigative methodology, scientific principles, and the analysis and interpretation of the resulting data. After laying a foundation on the rules of the laboratory, the basic scientific principles, and the types of biological materials, such as hair, blood, and bone, this practical, hands-on manual provides 12 exercises outlining techniques commonly used in DNA typing. Designed to be performed in a common laboratory, the experiments cover DNA extraction, concentration, and assessment; DNA analysis using restriction fragment length polymorphisms; polymerase chain reaction and PCR-based typing tests; short tandem repeat analysis; and mitochondrial DNA analysis. Many of the procedures described have been adapted from methods used in federal, state, and private forensic laboratories and are suitable to a wide range of applications. There is also an extensive glossary for DNA typing terminology and basic terms used in molecular biology. Instilling confidence, analytical clarity, and a sense of curiosity, this comprehensive introduction is the perfect tool for grasping the techniques and applications of forensic DNA analysis and exploring the questions and issues involved in forensic science investigations.

This book is about the increasing significance of DNA profiling for crime investigation in modern society. It focuses on developments in the UK as the world-leader in the development and application of forensic DNA technology and in the construction of DNA databases as an essential element in the successful use of DNA for forensic purposes. The book uses data collected during the course of Wellcome Trust funded research into police uses of the UK National DNA Database (NDNAD) to describe the relationship between scientific knowledge and police investigations. It will be illustrated throughout by reference to some of the major UK criminal cases in which DNA evidence has been presented and contested. Chapters in the book explain the scientific developments which have enabled DNA profiling to be applied to criminal investigation, the ways in which the state has directed this and how genetic technology has risen to such preeminence; how DNA evidence moved from its use in individual prosecutions to a major role in intelligence led policing, and saw the development of the UK National DNA Database; how legislative support for the NDNAD was mobilized, enabling the police to obtain and use genetic information on individuals. Finally, the authors examine the ways in which the DNA Expansion Programme, built on the supposed potential for the NDNAD to contribute to criminal detection, has been incorporated into a broader crime reduction strategy, and explore the implications for policing, governance and security of the continued expansion of the range and scope of the NDNAD.

The complexity of genome evolution poses many exciting challenges to devel- ers of mathematical models and algorithms, who have recourse to a spectrum of algorithmic, statisticalandmathematicaltechniques, rangingfromexact, heur- tic, ?xed-parameter and approximation algorithms for problems based on par- mony models to Monte Carlo Markov Chain algorithms for Bayesian analysis of problems based on probabilistic models. The annual RECOMB Satellite Workshop on Comparative Genomics (RECOMB ComparativeGenomics)is aforumonallaspects andcomponents of this ?eld, rangingfromnew quantitativediscoveriesabout genomestructureand process to theorems on the complexity of computational problems inspired by genome comparison. The informal steering committee for this meeting consists of David Sanko?, Jens Lagergren and Aoife McLysaght. Thisvolumecontainsthepaperspresentedatthe3rdRECOMBComparative Genomicsmeeting, whichwasheldinDublin, Ireland, onSeptember18-20,2005. The ?rst two meetings of this series were held in Minneapolis, USA (2003) and Bertinoro, Italy (2004). This year, 21 papers were submitted, of which the Program Committee - lected 14 for presentation at the meeting and inclusion in this proceedings.Each submission was refereed by at least three members of the Program Committee. Aftercompletionofthereferees'reports, anextensiveWeb-baseddiscussiontook placeformakingdecisions.TheRECOMBComparativeGenomics2005Program Committee consisted of the following 27 members: Vineet Bafna, Anne Be- eron, Mathieu Blanchette, Avril Coghlan, Dannie Durand, Nadia El-Mabrouk, Niklas Eriksen, Aaron Halpern, Rose Hoberman, Daniel Huson, Jens Lagergren, Giuseppe Lancia, Emmanuelle Lerat, Aoife McLysaght, Istvan Miklos, Bernard Moret, PavelPevzner, Ben Raphael, Marie-FranceSagot, David Sanko?, Cathal Seoighe, Beth Shapiro, Igor Sharakhov, Mike Steel, Jens Stoye, Glenn Tesler and Louxin Zhan. We would like to thank the ProgramCommittee members for their dedication and hard wo

Research in the ?eld of gene regulation is evolving rapidly in an ever-changing s- enti?c environment. Microarray techniques and comparative genomics have enabled more comprehensive studies of regulatory genomics and are proving to be powerful tools of discovery. The application of chromatin immunoprecipitation and microarrays (chIP-on-chip) to directly study the genomic binding locations of transcription factors has enabled more comprehensive modeling of regulatory networks. In addition, c- plete genome sequences and the comparison of numerous related species has dem- strated that conservation in non-coding DNA sequences often provides evidence for cis-regulatory binding sites. That said, much is still to be learned about the regulatory networks of these sequenced genomes. Systematic methods to decipher the regulatory mechanism are also crucial for c- roboratingthese regulatorynetworks.Thecoreof thesemethodsarethe motifdiscovery algorithms that can help predict cis-regulatory elements. These DNA-motif discovery programsarebecomingmoresophisticatedandare beginningto leverageevidencefrom comparative genomics (phylogenetic footprinting) and chIP-on-chip studies. How to use these new sources of evidence is an active area of research.

Applied Antisense Oligonucleotide Technology
Edited by C. A. Stein and Arthur M. Krieg
The past fifteen years have seen major developments in the field of antisense oligonucleotide therapeutics. Antisense technology now yields large amounts of data in clinical trials and shows tremendous potential for therapeutic use in conditions ranging from cancers to infectious diseases. This volume features articles by scientists and academics at the leading edge of antisense research, presenting for the first time an overview of this dynamic, rapidly growing field.
Applied Antisense Oligonucleotide Technology offers a balanced discussion of theory and application, with an emphasis on the practical aspects associated with the use of antisense oligonucleotides to modify gene expression. This book describes critical areas of research and includes results of clinical studies and strategies for use of various agents. It also covers topics of general interest such as pharmacokinetics, toxicity considerations, and the non-antisense effects of oligonucleotides.
Complete with real-world examples and over one hundred illustrations, Applied Antisense Oligonucleotide Technology is presented in seven major parts:
* Oligonucleotide chemistry
* The mechanism of action and non-sequence specificity in oligodeoxynucleotide therapeutics
* Sequence-specific inhibition of gene expression and applied antisense oligonucleotide therapeutics
* Oligodeoxynucleotides as anti-HIV agents
* Therapeutic oligonucleotide data base, including pharmacokinetics, immune stimulation agents, and the use of oligonucleotides as antirestenotic agents
* Splicing and DNA triplex formation
* Areview of the basic concepts in ribozyme technology
Applied Antisense Oligonucleotide Technology is an essential reference for researchers in biotechnology, genetics, and molecular biology. Easy to read and thoughtfully compiled by the co-editors of the journal Antisense Research and Development, this work is also accessible to researchers and academics in other areas, and anyone interested in pursuing this cutting-edge technology.

This is an introductory text and laboratory manual to be used primarily in undergraduate courses. It is also useful for graduate students and research scientists who require an introduction to the theory and methods of nanopore sequencing. The book has clear explanations of the principles of this emerging technology, together with instructional material written by experts that describes how to use a MinION nanopore instrument for sequencing in research or the classroom.At Harvard University the book serves as a textbook and lab manual for a university laboratory course designed to intensify the intellectual experience of incoming undergraduates while exploring biology as a field of concentration. Nanopore sequencing is an ideal topic as a path to encourage students about the range of courses they will take in Biology by pre-emptively addressing the complaint about having to take a course in Physics or Maths while majoring in Biology. The book addresses this complaint by concretely demonstrating the range of topics - from electricity to biochemistry, protein structure, molecular engineering, and informatics - that a student will have to master in subsequent courses if he or she is to become a scientist who truly understands what his or her biology instrument is measuring when investigating biological phenomena.

Crick and Watson's discovery of the structure of DNA fifty years ago marked one of the great turning points in the history of science. Biology, immunology, medicine and genetics have all been radically transformed in the succeeding half-century, and the double helix has become an icon of our times. This fascinating exploration of a scientific phenomenon provides a lucid and engaging account of the background and context for the discovery, its significance and afterlife, while a series of essays by leading scientists, historians and commentators offers uniquely individual perspectives on DNA and its impact on modern science and society.

The functional properties of any molecule are directly related to, and affected by, its structure. This is especially true for DNA, the molecular that carries the code for all life on earth.
The third edition of Understanding DNA has been entirely revised and updated, and expanded to cover new advances in our understanding. It explains, step by step, how DNA forms specific structures, the nature of these structures and how they fundamentally affect the biological processes of transcription and replication.
Written in a clear, concise and lively fashion, Understanding DNA is essential reading for all molecular biology, biochemistry and genetics students, to newcomers to the field from other areas such as chemistry or physics, and even for seasoned researchers, who really want to understand DNA.
* Describes the basic units of DNA and how these form the double helix, and the various types of DNA double helix
* Outlines the methods used to study DNA structure
* Contains over 130 illustrations, some in full color, as well as exercises and further readings to stimulate student comprehension

This volume describes high-throughput approaches to a series of robust, established methodologies in molecular genetic studies of population samples. Such developments have been essential not only to linkage and association studies of single-gene and complex traits in humans, animals and plants, but also to the characterisation of clone banks, for example in mapping of genomes. Chapters have been written by developers or highly experienced end-users concerned with a diverse array of biological applications. The book should appeal to any researcher for whom costs and throughput in their genetics laboratory have become an issue.

This book provides a timely summary of physical modeling approaches applied to biological datasets that describe conformational properties of chromosomes in the cell nucleus. Chapters explain how to convert raw experimental data into 3D conformations, and how to use models to better understand biophysical mechanisms that control chromosome conformation. The coverage ranges from introductory chapters to modeling aspects related to polymer physics, and data-driven models for genomic domains, the entire human genome, epigenome folding, chromosome structure and dynamics, and predicting 3D genome structure.

This complete and practical manual on expression measurement using DNA arrays covers the existing methods (from nylon macroarrays to oligonucleotide chips) and includes detailed protocols. It has been written by practising scientists who have experienced the difficulties involved in actually using microarrays, and provides helpful advice and hints on setting up these powerful but sometimes tricky methods. Software, data mining procedures and probable future developments, which should be useful to any practising scientist interested in expression measurement, are also covered in this book. It also provides detailed protocols as well as many helpful hints to achieve experimental success and to avoid pitfalls.

Colin Graham and a team of leading investigators and expert clinical scientists update the acclaimed first edition with a collection of powerful, up-to-date PCR-based methods for DNA sequencing, many suitable for human genome sequencing and mutation detection in human disease. This second edition offers new material on automated DNA sequencers, capillary DNA sequencers, heterozygote mutation detection, web-based sequencing databases and genome sequencing sites, and the human genome project. State-of-the-art and highly practical, DNA Sequencing Protocols, 2nd Edn. constitutes an essential laboratory handbook for geneticists and molecular biologists, offering concise, easy-to-follow methods that will work and impact today's genome sequencing projects.

The bestselling introduction to bioinformatics and genomics now in its third edition Widely received in its previous editions, Bioinformatics and Functional Genomics offers the most broad-based introduction to this explosive new discipline. Now in a thoroughly updated and expanded third edition, it continues to be the go-to source for students and professionals involved in biomedical research. This book provides up-to-the-minute coverage of the fields of bioinformatics and genomics. Features new to this edition include: * Extensive revisions and a slight reorder of chapters for a more effective organization * A brand new chapter on next-generation sequencing * An expanded companion website, also updated as and when new information becomes available * Greater emphasis on a computational approach, with clear guidance of how software tools work and introductions to the use of command-line tools such as software for next-generation sequence analysis, the R programming language, and NCBI search utilities The book is complemented by lavish illustrations and more than 500 figures and tables - many newly-created for the third edition to enhance clarity and understanding. Each chapter includes learning objectives, a problem set, pitfalls section, boxes explaining key techniques and mathematics/statistics principles, a summary, recommended reading, and a list of freely available software. Readers may visit a related Web page for supplemental information such as PowerPoints and audiovisual files of lectures, and videocasts of how to perform many basic operations: www.wiley.com/go/pevsnerbioinformatics. Bioinformatics and Functional Genomics, Third Edition serves as an excellent single-source textbook for advanced undergraduate and beginning graduate-level courses in the biological sciences and computer sciences. It is also an indispensable resource for biologists in a broad variety of disciplines who use the tools of bioinformatics and genomics to study particular research problems; bioinformaticists and computer scientists who develop computer algorithms and databases; and medical researchers and clinicians who want to understand the genomic basis of viral, bacterial, parasitic, or other diseases.

A comprehensive account of genomic rearrangement, focusing on the mechanisms of inversion, translocation, gene and genome duplication and gene transfer and on the patterns that result from them in comparative maps. Includes analyses of genomic sequences in organelles, prokaryotes and eukaryotes as well as comparative maps of the nuclear genomes in higher plants and animals. The book showcases a variety of algorithmic and statistical approaches to rearrangement and map data.

Biomedical research will be revolutionised by the current efforts to sequence the human genome and the genomes of model organisms. Of the newly sequenced genes, 50% code for proteins of unknown functions, while as little as 5% of sequences in mammalian genomes code for proteins. New, genome-wide approaches are needed to draw together the knowledge that is emerging simultaneously in a number of fields of genome research. This volume is a high-level survey of the newly emerging concepts of structural biology and functional genomics for biologists, biochemists and medical researchers interested in genome research. Topics included are chromosome and chromatin organisation, novel DNA and RNA structures, DNA flexibility, supercoiling, prediction of protein functions, strategies for large scale structural analysis, and computer modelling.

The field of eukaryotic DNA repair is enjoying a period of remarkable growth and discovery, fueled by technological advances in molecular biol- ogy, protein biochemistry, and genetics. Notahle achievements include the molecular cloning of multiple genes associated with classical human repair disorders, such as xeroderma pigmentosum, Cockayne syndrome, and ataxia telangiectasia; elucidation of the core reaction of nucleotide excision repair (NER); the discovery that certain NER proteins participate not only in repair, but also in transcription; recognition of the crucial role played by mismatch repair processes in maintenance of genome stability and avoidance of cancer; the findings that the tumor suppressor protein p53 is mutated in many types of cancer, and has a key role in directing potentially malignant, genotoxin-dam- aged cells towards an apoptotic fate; and the discovery and elaboration of DNA darnage (and replication) checkpoints, which placed repair phenomenol- ogy firmly within a cell-cycle context. Of course, much remains to be learned about DNA repair. Tothat end, DNA Repair Protocols: Eukaryotic Systems is about the tools and techniques that have helped propel the DNA repair field into the mainstream of biological research. DNA Repair Protoco/s: Eukaryotic Systems provides detailed, step-by- step instructions for studying manifold aspects of the eukaryotic response to genomic injury. The majority of chapters describe methods for analyzing DNA repair processes in mammalian cells. However, many ofthose techniques can be applied with only minor modification to other systems, and vice versa.

The structure of DNA varies along its sequence, which can lead to sequence-dependent variations in the fidelity of DNA copying and repair. And because the probability of distinct classes of mutations varies along a DNA sequence, variation that affects fitness will have evolutionary implications, as selection acts on heritable variation.

This Annals volume brings together a broad interdisciplinary group of researchers to explore the impact of increasing understanding of DNA structure, repair, replication, and organization on interrelated subjects ranging from evolution, to dependence of the effect of mutagens on environmental and sequence context, to noncanonical forms of information representation in genomes.

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Ancient DNA refers to DNA which can be recovered and analyzed from clinical, museum, archaeological and paleontological specimens. Ancient DNA ranges in age from less than 100 years to tens of millions of years. The study of ancient DNA is a young field, but it has been revolutionized by the application of polymerase chain reaction technology, and interest is growing very rapidly. Fields as diverse as evolution, anthropology, medicine, agriculture, and even law enforcement have quickly found applications in the recovery of ancient DNA. This book contains contributions from many of the "first generation" researchers who pioneered the development and application of ancient DNA methods. Their chapters present the protocols and precautions which have resulted in the remarkable results obtained in recent years. The range of subjects reflects the wide diversity of applications that are emerging in research on ancient DNA, including the study of DNA to analyze kinship, recovery of DNA from organisms trapped in amber, ancient DNA from human remains preserved in a variety of locations and conditions, DNA recovered from herbarium and museum specimens, and DNA isolated from ancient plant seeds or compression fossils. Ancient DNA will serve as a valuable source of information, ideas, and protocols for anyone interested in this extraordinary field.

Sports, Exercise, and Nutritional Genomics: Current Status and Future Directions is the first reference volume to offer a holistic examination of omics-driven advances across different aspects of exercise and sports physiology, biochemistry, sports medicine, psychology, anthropology, and sports nutrition; and highlighting the opportunities towards advance personalized training and athlete health management. More than 70 international experts from 14 countries have discussed key exercise and sport-related themes through the prism of genomics, epigenomics, transcriptomics, proteomics, metabolomics, telomere biology, talent in sport, individual differences in response to regular physical activity, that in the future may empower coaches, sports physicians, fitness experts, genetic counselors, and translational scientists to employ various omics data and approaches in improving health and physical performance of people participating in sports and exercise activities. Contributors address current knowledge of genetic influence on athletic performance, individual responses to exercise training, as well as the genetics of musculoskeletal phenotypes, exercise-related injuries, flexibility, and neurodegenerative disorders in athletes. Finally, performance-related and psychological traits associated with epigenetic, transcriptomic and metagenomic biomarkers are also considered, along with nutritional and pharmacogenomic aids in sports medicine and personalized nutrition.

Information is central to the evolution of biological complexity, a physical system relying on a continuous supply of energy. Biology provides superb examples of the consequent Darwinian selection of mechanisms for efficient energy utilisation. Genetic information, underpinned by the Watson-Crick base-pairing rules is largely encoded by DNA, a molecule uniquely adapted to its roles in information storage and utilisation.This volume addresses two fundamental questions. Firstly, what properties of the molecule have enabled it to become the predominant genetic material in the biological world today and secondly, to what extent have the informational properties of the molecule contributed to the expansion of biological diversity and the stability of ecosystems. The author argues that bringing these two seemingly unrelated topics together enables Schroedinger's What is Life?, published before the structure of DNA was known, to be revisited and his ideas examined in the context of our current biological understanding.

The field of whole genome selection has quickly developed into the breeding methodology of the future. As efforts to map a wide variety of animal genomes have matured and full animal genomes are now available for many animal scientists and breeders are looking to apply these techniques to livestock production. Providing a comprehensive, forward-looking review of animal genomics, Genomic Selection in Animals provides coverage of genomic selection in a variety of economically important species including cattle, swine, and poultry. The historical foundations of genomic selection are followed by chapters that review and assess current techniques. The final chapter looks toward the future and what lies ahead for field as application of genomic selection becomes more widespread. A concise, useful summary of the field by one of the world s leading researchers, Genomic Selection in Animals fills an important gap in the literature of animal breeding and genomics.

Statisticians have met the need to test hundreds or thousands of genomics hypotheses simultaneously with novel empirical Bayes methods that combine advantages of traditional Bayesian and frequentist statistics. Techniques for estimating the local false discovery rate assign probabilities of differential gene expression, genetic association, etc. without requiring subjective prior distributions. This book brings these methods to scientists while keeping the mathematics at an elementary level. Readers will learn the fundamental concepts behind local false discovery rates, preparing them to analyze their own genomics data and to critically evaluate published genomics research. Key Features: * dice games and exercises, including one using interactive software, for teaching the concepts in the classroom * examples focusing on gene expression and on genetic association data and briefly covering metabolomics data and proteomics data * gradual introduction to the mathematical equations needed * how to choose between different methods of multiple hypothesis testing * how to convert the output of genomics hypothesis testing software to estimates of local false discovery rates * guidance through the minefield of current criticisms of p values * material on non-Bayesian prior p values and posterior p values not previously published