Exploring Personal Genomics

Exploring Personal Genomics PDF Author: Joel T. Dudley
Publisher: Oxford University Press
ISBN: 0199644489
Category : Medical
Languages : en
Pages : 265

Get Book Here

Book Description
Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to give unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we are born, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is therefore an important component of the inevitable transition towards personalized medicine, as the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine. However there is currently very little training available for medical practitioners. Exploring Personal Genomics provides a novel, inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomic information. It is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, assessing rare variants and structural variation, and exploring resources for performing personal biological investigation. This advanced textbook is primarily aimed at undergraduate and graduate students taking classes in genomic medicine, genetics, and bioinformatics. It will also be of relevance and use to medical practitioners, evolutionary biologists, geneticists and individuals interested in exploring their personal genetic data.

Exploring Personal Genomics

Exploring Personal Genomics PDF Author: Joel T. Dudley
Publisher: Oxford University Press
ISBN: 0199644489
Category : Medical
Languages : en
Pages : 265

Get Book Here

Book Description
Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to give unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we are born, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is therefore an important component of the inevitable transition towards personalized medicine, as the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine. However there is currently very little training available for medical practitioners. Exploring Personal Genomics provides a novel, inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomic information. It is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, assessing rare variants and structural variation, and exploring resources for performing personal biological investigation. This advanced textbook is primarily aimed at undergraduate and graduate students taking classes in genomic medicine, genetics, and bioinformatics. It will also be of relevance and use to medical practitioners, evolutionary biologists, geneticists and individuals interested in exploring their personal genetic data.

Exploring Genomes

Exploring Genomes PDF Author: Paul G. Young
Publisher: Macmillan
ISBN: 9781429201780
Category : Science
Languages : en
Pages : 84

Get Book Here

Book Description
These interactive tutorials are used in conjunction with the online tutorials found at www.whfreeman.com/young, to guide students through live searches and analyses on the National Center for Biotechnology Information (NCBI) database. This edition includes three new tutorials on the COGs database, functional analysis, and environmental genomics.

The Gene

The Gene PDF Author: Siddhartha Mukherjee
Publisher: Simon and Schuster
ISBN: 1476733538
Category : Medical
Languages : en
Pages : 624

Get Book Here

Book Description
The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).

Satellite DNAs in Physiology and Evolution

Satellite DNAs in Physiology and Evolution PDF Author: Ðurðica Ugarković
Publisher: Springer Nature
ISBN: 3030748898
Category : Science
Languages : en
Pages : 234

Get Book Here

Book Description
This book gives a comprehensive overview of the unique roles that non-coding repetitive elements such as satellite DNAs play in different physiological and evolutionary processes. It presents the gene-regulatory aspect of satellite DNAs in different model systems including mammals, insects and plants. In addition, evolutionary aspects of activation of satellite DNAs in terms of transcription and proliferation are highlighted, revealing the role of satellite DNAs in the process of adaptation to changing environment and in the speciation process. Finally, the book discusses satellite DNA activation during pathological transformation and the mechanisms by which they affect disease progression. Namely, some satellite DNAs promote the oncogenic processes by affecting genome epigenetic regulation as well as genome integrity. Readers get a full overview of the latest research on satellite DNA.

Advances in Animal Genomics

Advances in Animal Genomics PDF Author: Sukanta Mondal
Publisher: Academic Press
ISBN: 0128206128
Category : Science
Languages : en
Pages : 340

Get Book Here

Book Description
Advances in Animal Genomics provides an outstanding collection of integrated strategies involving traditional and modern - omics (structural, functional, comparative and epigenomics) approaches and genomics-assisted breeding methods which animal biotechnologists can utilize to dissect and decode the molecular and gene regulatory networks involved in the complex quantitative yield and stress tolerance traits in livestock. Written by international experts on animal genomics, this book explores the recent advances in high-throughput, next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches which have enabled to produce huge genomic and transcriptomic resources globally on a genome-wide scale. This book is an important resource for researchers, students, educators and professionals in agriculture, veterinary and biotechnology sciences that enables them to solve problems regarding sustainable development with the help of current innovative biotechnologies. - Integrates basic and advanced concepts of animal biotechnology and presents future developments - Describes current high-throughput next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches for sustainable livestock production - Illustrates integrated strategies to dissect and decode the molecular and gene regulatory networks involved in complex quantitative yield and stress tolerance traits in livestock - Ensures readers will gain a strong grasp of biotechnology for sustainable livestock production with its well-illustrated discussion

Computational Genomics with R

Computational Genomics with R PDF Author: Altuna Akalin
Publisher: CRC Press
ISBN: 1498781861
Category : Mathematics
Languages : en
Pages : 463

Get Book Here

Book Description
Computational Genomics with R provides a starting point for beginners in genomic data analysis and also guides more advanced practitioners to sophisticated data analysis techniques in genomics. The book covers topics from R programming, to machine learning and statistics, to the latest genomic data analysis techniques. The text provides accessible information and explanations, always with the genomics context in the background. This also contains practical and well-documented examples in R so readers can analyze their data by simply reusing the code presented. As the field of computational genomics is interdisciplinary, it requires different starting points for people with different backgrounds. For example, a biologist might skip sections on basic genome biology and start with R programming, whereas a computer scientist might want to start with genome biology. After reading: You will have the basics of R and be able to dive right into specialized uses of R for computational genomics such as using Bioconductor packages. You will be familiar with statistics, supervised and unsupervised learning techniques that are important in data modeling, and exploratory analysis of high-dimensional data. You will understand genomic intervals and operations on them that are used for tasks such as aligned read counting and genomic feature annotation. You will know the basics of processing and quality checking high-throughput sequencing data. You will be able to do sequence analysis, such as calculating GC content for parts of a genome or finding transcription factor binding sites. You will know about visualization techniques used in genomics, such as heatmaps, meta-gene plots, and genomic track visualization. You will be familiar with analysis of different high-throughput sequencing data sets, such as RNA-seq, ChIP-seq, and BS-seq. You will know basic techniques for integrating and interpreting multi-omics datasets. Altuna Akalin is a group leader and head of the Bioinformatics and Omics Data Science Platform at the Berlin Institute of Medical Systems Biology, Max Delbrück Center, Berlin. He has been developing computational methods for analyzing and integrating large-scale genomics data sets since 2002. He has published an extensive body of work in this area. The framework for this book grew out of the yearly computational genomics courses he has been organizing and teaching since 2015.

String Processing and Information Retrieval

String Processing and Information Retrieval PDF Author: Alberto Apostolico
Publisher: Springer Science & Business Media
ISBN: 3540232109
Category : Computers
Languages : en
Pages : 345

Get Book Here

Book Description
This book constitutes the refereed proceedings of the 11th International Conference on String Processing and Information Retrieval, SPIRE 2004, held in Padova, Italy, in October 2004. The 28 revised full papers and 16 revised short papers presented were carefully reviewed and selected from 123 submissions. The papers address current issues in string pattern searching and matching, string discovery, data compression, data mining, text mining, machine learning, information retrieval, digital libraries, and applications in various fields, such as bioinformatics, speech and natural language processing, Web links and communities, and multilingual data.

The Human Mitochondrial Genome

The Human Mitochondrial Genome PDF Author: Giuseppe Gasparre
Publisher: Academic Press
ISBN: 0128226420
Category : Science
Languages : en
Pages : 596

Get Book Here

Book Description
The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth. With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways. - Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies - Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically - Outlines and discusses essential research protocols and perspectives for young scientists to pick up - Features an international team of authoritative contributors from basic biologists to clinician-scientists

Next Steps for Functional Genomics

Next Steps for Functional Genomics PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309676738
Category : Science
Languages : en
Pages : 201

Get Book Here

Book Description
One of the holy grails in biology is the ability to predict functional characteristics from an organism's genetic sequence. Despite decades of research since the first sequencing of an organism in 1995, scientists still do not understand exactly how the information in genes is converted into an organism's phenotype, its physical characteristics. Functional genomics attempts to make use of the vast wealth of data from "-omics" screens and projects to describe gene and protein functions and interactions. A February 2020 workshop was held to determine research needs to advance the field of functional genomics over the next 10-20 years. Speakers and participants discussed goals, strategies, and technical needs to allow functional genomics to contribute to the advancement of basic knowledge and its applications that would benefit society. This publication summarizes the presentations and discussions from the workshop.

Junk DNA

Junk DNA PDF Author: Nessa Carey
Publisher: Icon Books
ISBN: 184831826X
Category : Science
Languages : en
Pages : 376

Get Book Here

Book Description
From the author of the acclaimed The Epigenetics Revolution (‘A book that would have had Darwin swooning’ – Guardian) comes another thrilling exploration of the cutting edge of human science. For decades after the structure of DNA was identified, scientists focused purely on genes, the regions of the genome that contain codes for the production of proteins. Other regions – 98% of the human genome – were dismissed as ‘junk’. But in recent years researchers have discovered that variations in this ‘junk’ DNA underlie many previously intractable diseases, and they can now generate new approaches to tackling them. Nessa Carey explores, for the first time for a general audience, the incredible story behind a controversy that has generated unusually vituperative public exchanges between scientists. She shows how junk DNA plays an important role in areas as diverse as genetic diseases, viral infections, sex determination in mammals, human biological complexity, disease treatments, even evolution itself – and reveals how we are only now truly unlocking its secrets, more than half a century after Crick and Watson won their Nobel prize for the discovery of the structure of DNA in 1962.