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

The results obtained from, and techniques used in, different fields of science, such as mathematics, physics and biology are selected, gathered and analyzed to provide an introduction to the developing field of research into the nonlinear physics of DNA. The DNA molecule, which has been traditionally studied by techniques developed through molecular biology, is considered here rather from a physicist's viewpoint, as a nonlinear dynamical system. This is a complimentary way of looking at the molecule, and is arrived at following both a theoretical analysis of interactions and motions in DNA, and as a result of interpretation of experimental data. It is shown that this "nonlinear physics" approach allows one to explain some of the mechanisms of DNA functioning, and that it can offer possibilities in the study and interpretation of genetic codes. This text introduces all those involved in the study of the DNA molecule from a traditional, molecular biology viewpoint, to some of the results and developments which have been realized using a nonlinear physics approach, and should also allow biologists, biochemists and physicists to continue to develop non-traditional techniques of investigating the DNA molecule.

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.

This is the story of how three men won the Nobel Prize for their research on the humble nematode worm "C. elegans"; how their extraordinary discovery led to the sequencing of the human genome; how a global multibillion-dollar industry was born; and how the mysteries of life were revealed in a tiny, brainless worm.

In 1998 the nematode worm -- perhaps the most intensively studied animal on earth -- was the first multicellular organism ever to have its genome sequenced and its DNA mapped and read. "When we understand the worm, we will understand life," predicted John Sulston, one of the three Nobel laureates, and his prediction proved astonishingly accurate. Four years later, the research that led to this extraordinary event garnered three scientists a Nobel Prize. Along with Robert Horvitz and Sydney Brenner, Sulston discovered the phenomenon of programmed cell death in the worm, an essential concept that explains how biological development occurs in animal life and, as Horvitz later showed, how it occurs in human life. "C. elegans" is about as simple as an animal can be, but understanding its genetic organization is helping to reveal the mechanisms of life and, by extension, the mechanisms of our own lives. "In the Beginning Was the Worm" shows that in order to unlock the secrets of the human genome we must first understand the worm.

But this story is about more than just the worm. It is about how an eccentric group of impassioned scientists toiled in near anonymity for years, driven only by a deep passion for knowledge and scientific discovery. It is the story of countless hours of research, immense ambition, and one of the greatest discoveries in human history.

'Species' are central to understanding the origin and dynamics of biological diversity; explaining why lineages split into multiple distinct species is one of the main goals of evolutionary biology. However the existence of species is often taken for granted, and precisely what is meant by species and whether they really exist as a pattern of nature has rarely been modelled or critically tested. This novel book presents a synthetic overview of the evolutionary biology of species, describing what species are, how they form, the consequences of species boundaries and diversity for evolution, and patterns of species accumulation over time. The central thesis is that species represent more than just a unit of taxonomy; they are a model of how diversity is structured as well as how groups of related organisms evolve. The author adopts an intentionally broad approach, stepping back from the details to consider what species constitute, both theoretically and empirically, and how we detect them, drawing on a wealth of examples from microbes to multicellular organisms.

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.

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 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 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.

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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Perinatal and Developmental Epigenetics, Volume 32, a new volume in the Translational Epigenetics series, provides a thorough overview of epigenetics in the early developmental and perinatal stages, illuminating pathways for drug discovery and clinical advances. Here, over 25 international researchers examine recent steps forward in our understanding of epigenetic programming during perinatal and early development. The book opens with an in-depth introduction to known and newly discovered epigenetic marks and how they regulate various cellular processes. Later sections examine various prenatal and perinatal environmental experiences and their ability to derail the normal developmental trajectory via epigenetic reprogramming. Insights and suggestions for future research illuminate approaches for identifying individual disease susceptibility. Concluding chapters highlight preventative and targeted therapeutic pathways to improve quality of life into adulthood.

Around 200,000 years ago, a man--identical to us in all important respects--lived in Africa. Every person alive today is descended from him. How did this real-life Adam wind up father of us all? What happened to the descendants of other men who lived at the same time? And why, if modern humans share a single prehistoric ancestor, do we come in so many sizes, shapes, and races? Showing how the secrets about our ancestors are hidden in our genetic code, Spencer Wells reveals how developments in the cutting-edge science of population genetics have made it possible to create a family tree for the whole of humanity. We now know not only where our ancestors lived but who they fought, loved, and influenced. Informed by this new science, The Journey of Man is replete with astonishing information. Wells tells us that we can trace our origins back to a single Adam and Eve, but that Eve came first by some 80,000 years. We hear how the male Y-chromosome has been used to trace the spread of humanity from Africa into Eurasia, why differing racial types emerged when mountain ranges split population groups, and that the San Bushmen of the Kalahari have some of the oldest genetic markers in the world. We learn, finally with absolute certainty, that Neanderthals are not our ancestors and that the entire genetic diversity of Native Americans can be accounted for by just ten individuals. It is an enthralling, epic tour through the history and development of early humankind--as well as an accessible look at the analysis of human genetics that is giving us definitive answers to questions we have asked for centuries, questions now more compelling than ever.

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.

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.

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.

Pathological Specimens and Genomic Medicine - Emerging Issues surveys various fields and medical disciplines related to the implementation of the new field of genomic medicine. The book includes sections on specimen processing, the effects of tissue fixation and storage impact on downstream molecular assays, image analysis and its role in the pathology workflow, molecular evaluation of samples, and how to present data to clinicians. The book contains examples of cases where these innovative technologies are applied in the real world, and also presents a look in to the future of the field of genomic medicine.

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more.

The latest edition of this highly successful textbook introduces the key techniques and concepts involved in cloning genes and in studying their expression and variation.
The new edition features:
Increased coverage of whole-genome sequencing technologies and enhanced treatment of bioinformatics.Clear, two-colour diagrams throughout.A dedicated website including all figures.

Noted for its outstanding balance between clarity of coverage and level of detail, this book provides an excellent introduction to the fast moving world of molecular genetics.

Genomic Medicine Skills and Competencies discusses core and practical aspects of genetic and genomic education and training for medical field. Many aspects of genomic applications in science, biotechnology, clinical medicine and healthcare require core and specialist knowledge, skills development and competencies for carrying out diverse tasks. Several knowledge-based courses and opportunities for skills and competencies development and assessment are now available and the main required subjects are discussed in this volume. The book focuses on all major aspects of genetic and genomic education training that are currently offered and evaluated and is a valuable resource for researchers, clinicians, physicians, nurses, genetic counselors, bioinformatics technicians, and other professionals who are interested in learning more about such promising field.

Wide coverage of traditional unsupervised and supervised methods and newer contemporary approaches that help researchers handle the rapid growth of classification methods in DNA microarray studies

Proliferating classification methods in DNA microarray studies have resulted in a body of information scattered throughout literature, conference proceedings, and elsewhere. This book unites many of these classification methods in a single volume. In addition to traditional statistical methods, it covers newer machine-learning approaches such as fuzzy methods, artificial neural networks, evolutionary-based genetic algorithms, support vector machines, swarm intelligence involving particle swarm optimization, and more.

"Classification Analysis of DNA Microarrays "provides highly detailed pseudo-code and rich, graphical programming features, plus ready-to-run source code. Along with primary methods that include traditional and contemporary classification, it offers supplementary tools and data preparation routines for standardization and fuzzification; dimensional reduction via crisp and fuzzy c-means, PCA, and non-linear manifold learning; and computational linguistics via text analytics and n-gram analysis, recursive feature extraction during ANN, kernel-based methods, ensemble classifier fusion.

This powerful new resource: Provides information on the use of classification analysis for DNA microarrays used for large-scale high-throughput transcriptional studiesServes as a historical repository of general use supervised classification methods as well as newer contemporary methodsBrings the reader quickly up to speed on the various classification methods by implementing the programming pseudo-code and source code provided in the bookDescribes implementation methods that help shorten discovery times

"Classification Analysis of DNA Microarrays" is useful for professionals and graduate students in computer science, bioinformatics, biostatistics, systems biology, and many related fields.

Chromatin Readers in Health and Disease, Volume 35, a new release in the Translational Epigenetics series, gathers and makes actionable our current understanding of how chromatin readers regulate access to genetic information, and how their aberrant regulation can contribute to human pathologies. Chromatin readers discussed include 14-3-3 Dinshaw, ADD, Ankyrin, BAH, BET, BIR, BRCT, bromodomains and Kac readers, chromodomains and chromobarrel readers, citrullination readers, macrodomains and poly-ADP-ribose readers, MBT, PHD and double PHD, PWWP, SUMO (H4K12) readers, Tudor and TTD, UDR and ubiquitin, WD40, YEATS (crotonyl reader), MBD, SRA, and Methyl-RNA readers. In the book, more than a dozen leaders in the field examine a range of protein readers, their relationship to human disease, and the early therapeutics that act as chromatin signaling factors to treat cancers and Huntington's disease, among other disorders.