Download or read book Clinical Applications for Next Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies

Download or read book Disease Gene Identification Through Next Generation Sequencing written by Christian Fransiscus Hendrika Andreas Gilissen and published by . This book was released on 2012 with total page 255 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Disease Gene Identification written by Johanna K. DiStefano and published by Humana. This book was released on 2019-06-06 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular approaches to disease gene identification and overviews, and case studies are also presented. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention.

Download or read book Microbial Forensics written by Bruce Budowle and published by Academic Press. This book was released on 2010-10-27 with total page 753 pages. Available in PDF, EPUB and Kindle. Book excerpt: Microbial Forensics is a rapidly evolving scientific discipline. In the last decade, and particularly due to the anthrax letter attacks in the United States, microbial forensics has become more formalized and has played an increasingly greater role in crime investigations. This has brought renewed interest, development and application of new technologies, and new rules of forensic and policy engagement. It has many applications ranging from biodefense, criminal investigations, providing intelligence information, making society more secure, and helping protect precious resources, particularly human life. A combination of diverse areas is investigated, including the major disciplines of biology, microbiology, medicine, chemistry, physics, statistics, population genetics, and computer science. Microbial Forensics, Second Edition is fully revised and updated and serves as a complete reference of the discipline. It describes the advances, as well as the challenges and opportunities ahead, and will be integral in applying science to help solve future biocrimes. - A collection of microbiology, virology, toxicology and mycology as it relates to forensics, in one reference - New and expanded content to include statistical analysis of forensic data and legal admissibility and the standards of evidence, to name a few - Includes research information and application of that research to crime scene analysis, which will allow practitioners to understand and apply the knowledge to their practice with ease

Download or read book Childhood Acute Lymphoblastic Leukemia written by Ajay Vora and published by Springer. This book was released on 2017-04-21 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.

Download or read book Next Generation Sequencing written by Jerzy Kulski and published by BoD – Books on Demand. This book was released on 2016-01-14 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: Next generation sequencing (NGS) has surpassed the traditional Sanger sequencing method to become the main choice for large-scale, genome-wide sequencing studies with ultra-high-throughput production and a huge reduction in costs. The NGS technologies have had enormous impact on the studies of structural and functional genomics in all the life sciences. In this book, Next Generation Sequencing Advances, Applications and Challenges, the sixteen chapters written by experts cover various aspects of NGS including genomics, transcriptomics and methylomics, the sequencing platforms, and the bioinformatics challenges in processing and analysing huge amounts of sequencing data. Following an overview of the evolution of NGS in the brave new world of omics, the book examines the advances and challenges of NGS applications in basic and applied research on microorganisms, agricultural plants and humans. This book is of value to all who are interested in DNA sequencing and bioinformatics across all fields of the life sciences.

Download or read book Next Generation Sequencing NGS for Rare Diseases Diagnosis written by Xiu-An Yang and published by Frontiers Media SA. This book was released on 2022-01-28 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Download or read book Advances in the Understanding of Biological Sciences Using Next Generation Sequencing NGS Approaches written by Gaurav Sablok and published by Springer. This book was released on 2015-07-16 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a global view of the recent advances in the biological sciences and the adaption of the pathogen to the host plants revealed using NGS. Molecular Omic’s is now a major driving force to learn the adaption genetics and a great challenge to the scientific community, which can be resolved through the application of the NGS technologies. The availability of complete genome sequences, the respective model species for dicot and monocot plant groups, presents a global opportunity to delineate the identification, function and the expression of the genes, to develop new tools for the identification of the new genes and pathway identification. Genome-wide research tools, resources and approaches such as data mining for structural similarities, gene expression profiling at the DNA and RNA level with rapid increase in available genome sequencing efforts, expressed sequence tags (ESTs), RNA-seq, gene expression profiling, induced deletion mutants and insertional mutants, and gene expression knock-down (gene silencing) studies with RNAi and microRNAs have become integral parts of plant molecular omic’s. Molecular diversity and mutational approaches present the first line of approach to unravel the genetic and molecular basis for several traits, QTL related to disease resistance, which includes host approaches to combat the pathogens and to understand the adaptation of the pathogen to the plant host. Using NGS technologies, understanding of adaptation genetics towards stress tolerance has been correlated to the epigenetics. Naturally occurring allelic variations, genome shuffling and variations induced by chemical or radiation mutagenesis are also being used in functional genomics to elucidate the pathway for the pathogen and stress tolerance and is widely illustrated in demonstrating the identification of the genes responsible for tolerance in plants, bacterial and fungal species.

Download or read book Next Generation Sequencing written by Lee-Jun C. Wong and published by Springer Science & Business Media. This book was released on 2013-05-31 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

Download or read book Next Generation Sequencing Technologies in Medical Genetics written by C. Alexander Valencia and published by Springer Science & Business Media. This book was released on 2013-10-16 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.​

Download or read book Mendelian Disease Gene Identification and Diagnosis Using Targeted Next Generation Sequencing written by Daniel Trujillano Lidón and published by . This book was released on 2015 with total page 235 pages. Available in PDF, EPUB and Kindle. Book excerpt: Les tecnologies de seqüenciació de nova generació (NGS) han emergit com a una poderosa eina per al descobriment de mutacions causals i nous gens per a malalties Mendelianes, i estan tenint un ràpid impacte en l'àmbit del diagnòstic genètic. Les tecnologies de NGS es poden utilitzar en combinació amb mètodes d'enriquiment de l'ADN per a seqüenciar en profunditat regions genòmiques diana, com l'exoma o gens associats a malalties, entregant informació genètica d'una manera ràpida, barata i acurada. Aquesta tesi descriu l'aplicació de la NGS dirigida per a identificar un nou gen per a la hipertensió hipercalièmica familiar. També s'explora la traducció clínica de les tecnologies de NGS per a millorar el diagnòstic genètic d'un panell heterogeni de malalties Mendelianes, què inclou la fibrosi quística, hiperfenilalaninèmies i la malaltia renal poliquística autosòmica dominant. Els resultats d'aquesta tesi no només ratifiquen la NGS dirigida com a una potent eina per al descobriment de gens de malalties Mendelianes, sinó què també demostren que aquesta tecnologia està preparada per a substituir els mètodes moleculars tradicionals a l'àmbit de la genètica mèdica.

Download or read book Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders written by Lee-Jun C. Wong and published by Springer. This book was released on 2017-05-15 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Download or read book Deciphering the Mechanisms of Genetic Disorders by High Throughput Genomic Data written by Suying Bao and published by Open Dissertation Press. This book was released on 2017-01-26 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This dissertation, "Deciphering the Mechanisms of Genetic Disorders by High Throughput Genomic Data" by Suying, Bao, 鲍素莹, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author. Abstract: A new generation of non-Sanger-based sequencing technologies, so called "next-generation" sequencing (NGS), has been changing the landscape of genetics at unprecedented speed. In particular, our capacity in deciphering the genotypes underlying phenotypes, such as diseases, has never been greater. However, before fully applying NGS in medical genetics, researchers have to bridge the widening gap between the generation of massively parallel sequencing output and the capacity to analyze the resulting data. In addition, even a list of candidate genes with potential causal variants can be obtained from an effective NGS analysis, to pinpoint disease genes from the long list remains a challenge. The issue becomes especially difficult when the molecular basis of the disease is not fully elucidated. New NGS users are always bewildered by a plethora of options in mapping, assembly, variant calling and filtering programs and may have no idea about how to compare these tools and choose the "right" ones. To get an overview of various bioinformatics attempts in mapping and assembly, a series of performance evaluation work was conducted by using both real and simulated NGS short reads. For NGS variant detection, the performances of two most widely used toolkits were assessed, namely, SAM tools and GATK. Based on the results of systematic evaluation, a NGS data processing and analysis pipeline was constructed. And this pipeline was proved a success with the identification of a mutation (a frameshift deletion on Hnrnpa1, p.Leu181Valfs*6) related to congenital heart defect (CHD) in procollagen type IIA deficient mice. In order to prioritize risk genes for diseases, especially those with limited prior knowledge, a network-based gene prioritization model was constructed. It consists of two parts: network analysis on known disease genes (seed-based network strategy)and network analysis on differential expression (DE-based network strategy). Case studies of various complex diseases/traits demonstrated that the DE-based network strategy can greatly outperform traditional gene expression analysis in predicting disease-causing genes. A series of simulation work indicated that the DE-based strategy is especially meaningful to diseases with limited prior knowledge, and the model's performance can be further advanced by integrating with seed-based network strategy. Moreover, a successful application of the network-based gene prioritization model in influenza host genetic study further demonstrated the capacity of the model in identifying promising candidates and mining of new risk genes and pathways not biased toward our current knowledge. In conclusion, an efficient NGS analysis framework from the steps of quality control and variant detection, to those of result analysis and gene prioritization has been constructed for medical genetics. The novelty in this framework is an encouraging attempt to prioritize risk genes for not well-characterized diseases by network analysis on known disease genes and differential expression data. The successful applications in detecting genetic factors associated with CHD and influenza host resistance demonstrated the efficacy of this framework. And this may further stimulate more applications of high throughput genomic data in dissecting the genetic components of human disorders in the near future. DOI: 10.5353/th_b5177308 Subjects: Nucleoti

Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field

Download or read book Identifying Novel Genes and Genetic Phenotypic Spectra for Inherited Neurodegenerative Disorders Using Next Generation Sequencing written by Michael A Gonzalez and published by . This book was released on 2014 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Length-dependent axonal degeneration, sometimes referred to as the "dying-back" of a nerve, results in axonal degeneration at the most distal extent of the axon. Degeneration of extended axons in the peripheral (PNS) and central nervous systems (CNS) is the pathological basis for a number of neurological disorders, including the axonal peripheral neuropathies known as Charcot-Marie-Tooth disease type 2 (CMT2) and the axonal degeneration of the corticospinal tract in the CNS known as hereditary spastic paraplegias (HSP). CMT2 and HSP are inherited neurodegenerative disorders characterized by progressive axonal degeneration, which can cause severe disabilities and have no clinically available treatment options. While length-dependent axonal degeneration in CMT2 occurs in the periphery and in HSP in the central nervous system, it is becoming more evident that there is significant biological and genetic overlap between these disorders. In addition, the known genes only explain ~60% of HSP cases and ~30% of CMT2 cases, which suggests many more disease genes are still left to be identified. New technologies, such as exome and genome sequencing, allow us to rapidly increase our knowledge on genes involved in these diseases. Therefore, the overall goal of this project was to use exome sequencing to build upon and extend the existing knowledge of genetic factors and biological pathways involved in axonopathies. I analyzed >1,000 whole exome datasets from patients with CMT2 and HSP. This analysis has lead to the identification of the novel disease genes MARS and DDHD2, which cause CMT2 and HSP, respectively. However, while producing this large cohort of exome data, it became evident that novel strategies for analyzing genomic-scale data would be needed. To this end, I developed GEnomes Management Application (GEM.app) to address the computational challenges brought forth by genomic 'big data'. This platform has lead to numerous gene identifications (BICD2, GBA2, DDHD1, DDHD2, FBXO38, REEP2, etc). Due to the scalability of the GEM.app platform, I was able to analyze large collections of exome datasets. These analyses lead to the findings that redefined the phenotypic spectrum of two disease genes PNPLA6 and VCP. Given that much of our knowledge of the pathophysiology of these diseases has initially been identified via genetic studies, the value of the present work cannot be underestimated. Further characterization of molecular pathways involved in axonal degeneration will lead to better understanding of biological mechanisms and eventually lead to new therapeutic options for disorders characterized by axon degeneration.