Clinical Genomics

Clinical Genomics
Author: Shashikant Kulkarni,John Pfeifer
Publsiher: Academic Press
Total Pages: 488
Release: 2014-11-10
ISBN 10: 0124051731
ISBN 13: 9780124051737
Language: EN, FR, DE, ES & NL

Clinical Genomics Book Review:

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Clinical Genome Sequencing

Clinical Genome Sequencing
Author: Aad Tibben,Barbara B. Biesecker
Publsiher: Academic Press
Total Pages: 258
Release: 2019-03-30
ISBN 10: 0128133368
ISBN 13: 9780128133361
Language: EN, FR, DE, ES & NL

Clinical Genome Sequencing Book Review:

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care
Author: Michael T. Murray, MD,Mark Babyatski, MD
Publsiher: McGraw Hill Professional
Total Pages: 928
Release: 2013-11-07
ISBN 10: 0071622446
ISBN 13: 9780071622448
Language: EN, FR, DE, ES & NL

Clinical Genomics Practical Applications for Adult Patient Care Book Review:

The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
Author: Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publsiher: Academic Press
Total Pages: 534
Release: 2020-04-10
ISBN 10: 0128173459
ISBN 13: 9780128173459
Language: EN, FR, DE, ES & NL

Handbook of Clinical Adult Genetics and Genomics Book Review:

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Spaces of Convergence in a Cancer Clinical Genomics Trial

Spaces of Convergence in a Cancer Clinical Genomics Trial
Author: Vu Tien Dung Ha
Publsiher: Unknown
Total Pages: 140
Release: 2017
ISBN 10:
ISBN 13: OCLC:1125679533
Language: EN, FR, DE, ES & NL

Spaces of Convergence in a Cancer Clinical Genomics Trial Book Review:

The emergence of big data in the network age has led to many innovative breakthroughs in all sectors of life. One significant breakthrough are the prominent applications of clinical genomics in developing personalized medicine. In this thesis I explore the technological diffusion of clinical genomics within the spaces of convergence of multidisciplinary medical stakeholders in the Personalized Onco-Genomics (POG) cancer clinical trial, I co-developed the concept of "Genomic literacy" by drawing upon three areas of scholarship: health communication, information communication technologies (ICTs), and science and technology. I gathered data using a survey and semi-structured interviews with medical oncologists and other scientists at. Using this data I examine how genomic literacy, attitudes, and experiences of the domain experts working with clinical genomics can determine the adoption of genomic technologies into clinical care. These spaces of convergence of multidisciplinary medical stakeholders also create a pedagogical space where the stakeholders come together. This bioclinical collective of stakeholders learn more about genomics through their communicative and discursive processes, as they co-construct knowledge and meaning with genomic information.

Genomics Circuits and Pathways in Clinical Neuropsychiatry

Genomics  Circuits  and Pathways in Clinical Neuropsychiatry
Author: Thomas Lehner,Bruce L. Miller,Matthew W. State
Publsiher: Academic Press
Total Pages: 796
Release: 2016-06-07
ISBN 10: 0128005300
ISBN 13: 9780128005309
Language: EN, FR, DE, ES & NL

Genomics Circuits and Pathways in Clinical Neuropsychiatry Book Review:

This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Noninvasive Prenatal Testing NIPT

Noninvasive Prenatal Testing  NIPT
Author: Lieve Page-Christiaens,Hanns-Georg Klein
Publsiher: Academic Press
Total Pages: 405
Release: 2018-08-19
ISBN 10: 0128141905
ISBN 13: 9780128141908
Language: EN, FR, DE, ES & NL

Noninvasive Prenatal Testing NIPT Book Review:

Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques

Genomics and Clinical Medicine

Genomics and Clinical Medicine
Author: Dhavendra Kumar,David Weatherall
Publsiher: Oxford University Press
Total Pages: 651
Release: 2008-02-15
ISBN 10: 0195188136
ISBN 13: 9780195188134
Language: EN, FR, DE, ES & NL

Genomics and Clinical Medicine Book Review:

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Genomics Proteomics and Clinical Bacteriology

Genomics  Proteomics  and Clinical Bacteriology
Author: Neil Woodford,Alan Patrick Johnson
Publsiher: Springer Science & Business Media
Total Pages: 395
Release: 2004
ISBN 10: 1592597637
ISBN 13: 9781592597635
Language: EN, FR, DE, ES & NL

Genomics Proteomics and Clinical Bacteriology Book Review:

This review of the application of proteomic and genomic advances in clinical biology covers principles such as the application of genomics to diagnostic bacteriology and protocols for interrogating bacterial genomes. It also provides updates on all the significant advances of genome sequencing.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publsiher: Academic Press
Total Pages: 790
Release: 2020-09-30
ISBN 10: 0128126833
ISBN 13: 9780128126837
Language: EN, FR, DE, ES & NL

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book Review:

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Clinical Genomics in Medical Practice

Clinical Genomics in Medical Practice
Author: Pericak-Vance
Publsiher: Unknown
Total Pages: 329
Release: 2009-12-15
ISBN 10: 9780071446518
ISBN 13: 0071446516
Language: EN, FR, DE, ES & NL

Clinical Genomics in Medical Practice Book Review:

Oxford Desk Reference

Oxford Desk Reference
Author: Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publsiher: Oxford University Press, USA
Total Pages: 708
Release: 2005
ISBN 10: 9780192628961
ISBN 13: 0192628968
Language: EN, FR, DE, ES & NL

Oxford Desk Reference Book Review:

Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author: Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publsiher: Academic Press
Total Pages: 436
Release: 2021-02-27
ISBN 10: 0128205202
ISBN 13: 9780128205204
Language: EN, FR, DE, ES & NL

Clinical DNA Variant Interpretation Book Review:

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. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Development and Evaluation of Software for Applied Clinical Genomics

Development and Evaluation of Software for Applied Clinical Genomics
Author: Casper Shyr
Publsiher: Unknown
Total Pages: 329
Release: 2016
ISBN 10:
ISBN 13: OCLC:1033068008
Language: EN, FR, DE, ES & NL

Development and Evaluation of Software for Applied Clinical Genomics Book Review:

Precision Medicine A Guide to Genomics in Clinical Practice

Precision Medicine  A Guide to Genomics in Clinical Practice
Author: Jeanette J. McCarthy,Bryce A. Mendelsohn
Publsiher: McGraw-Hill Education / Medical
Total Pages: 240
Release: 2016-12-23
ISBN 10: 9781259644139
ISBN 13: 1259644138
Language: EN, FR, DE, ES & NL

Precision Medicine A Guide to Genomics in Clinical Practice Book Review:

A complete how-to guide for incorporating genomics into all applicable areas of clinical medicine Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. To be as clinically relevant as possible, the book intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support. Precision Medicine: A Guide to Genomics in Clinical Practice follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage. This organization allows healthcare providers to easily find the information relevant to their practice. Throughout, the authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare. The book is enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement. If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practice belongs on your desk.

Genomic and Precision Medicine

Genomic and Precision Medicine
Author: Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
Publsiher: Academic Press
Total Pages: 370
Release: 2017-03-30
ISBN 10: 0128006544
ISBN 13: 9780128006542
Language: EN, FR, DE, ES & NL

Genomic and Precision Medicine Book Review:

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients

Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics
Author: Ralph Rapley,David Whitehouse
Publsiher: Royal Society of Chemistry
Total Pages: 574
Release: 2019-01-29
ISBN 10: 1788016807
ISBN 13: 9781788016803
Language: EN, FR, DE, ES & NL

Genomics and Clinical Diagnostics Book Review:

Genomics and genome technology is having, and continues to have, a major impact on all areas of bioscience research providing insights into the key area of molecular mechanisms of cells in health and disease. This is causing a profound effect on biomedical science and is accelerating the development of new diagnostic applications. This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area. The initial chapters focus on principal molecular technologies that underpin the information in the later chapters. In addition to introductory areas of nucleic acids and techniques in molecular biology, bioinformatics and proteomics, other key diagnostic areas such as the use of immunological reagents are covered. The later chapters provide more specialised examples of currently used diagnostic technologies and insights into selected key diagnostic challenges including specific examples of molecular microbial diagnostics and molecular biomarkers in oncology. The running themes through the chapters provides an insight into current and future perspectives in this rapidly evolving field.

Medical and Health Genomics

Medical and Health Genomics
Author: Dhavendra Kumar,Stylianos Antonarakis
Publsiher: Academic Press
Total Pages: 358
Release: 2016-06-04
ISBN 10: 0127999221
ISBN 13: 9780127999227
Language: EN, FR, DE, ES & NL

Medical and Health Genomics Book Review:

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Methods and Applications for Position specific Evolutionary Features in Clinical Genomics

Methods and Applications for Position specific Evolutionary Features in Clinical Genomics
Author: Joel Dudley
Publsiher: Unknown
Total Pages: 329
Release: 2011
ISBN 10:
ISBN 13: OCLC:745374742
Language: EN, FR, DE, ES & NL

Methods and Applications for Position specific Evolutionary Features in Clinical Genomics Book Review:

One of the grand challenges in genomic medicine is to translate fundamental scientific discoveries regarding the structure, variation, and function of the genomes of individuals and populations towards improved health outcomes. The main hypothesis of this thesis is that all forms of human genetic variation contributing to the etiology and pathophysiology of modern human diseases have distinct and quantifiable evolutionary histories, which can be computed for every position in the human genome independent of human population characteristics, and used as informative quantitative priors in the discovery and assessment of variants of clinical importance in modern human populations. To enable robust evaluation of the specific questions posed by this thesis, I first explore the necessary properties and theoretical basis for a null evolutionary hypothesis for Evolutionary Genomic Medicine, and conclude that the well-established Neutral Theory of Molecular Evolution provides a sound theoretical and methodological basis for evaluating alternative hypothesis in Evolutionary Genomic Medicine. Due to advances in multiplex genotyping technologies, genome-wide associations studies (GWAS), have emerged as the premier modality for discovery and assessment clinical genomic variation. Although these efforts have been successful in revealing thousands variants robustly associated with a broad spectrum of clinical phenotypes, the variants established by the GWAS approach have so far failed to explain large proportions of the known genetic variance associated with important clinical traits such as Type 2 Diabetes and Hypertension. Because disease-associated variation is linked with genomic loci of functional importance which have undergone evolutionary selection, and even the proxy loci (e.g. tagging SNPs) used to probe for disease associated loci themselves have quantifiable evolutionary histories, I evaluate a compendium of disease-associated variants to evaluate the effect of long-term evolutionary histories on the discovery of disease-associated variants. Through this work I demonstrate that disease-associated variants have distinct evolutionary properties, and that evolutionary features of positions can be incorporated as priors to improve discovery of disease-associated variants. A similar approach is applied to evaluate pharmacogenomics variants associated with warfarin, demonstrating that evolutionary features of genomic positions improve clinical assessment of pharmacogenomics variation. Through the findings and insights gained from efforts in pursuit of my thesis which are reported here, my collaborators and I clearly demonstrate that quantitative evolutionary features can be estimated for each position in the human genome across species, and then applied to modern human population data to improve discovery and assessment of genomic variation associated with clinical phenotypes.

Enabling Clinical Genomics by Reducing False Discovery in Next generation Sequencing Data

Enabling Clinical Genomics by Reducing False Discovery in Next generation Sequencing Data
Author: Kimberly Robasky
Publsiher: Unknown
Total Pages: 244
Release: 2013
ISBN 10:
ISBN 13: OCLC:950971381
Language: EN, FR, DE, ES & NL

Enabling Clinical Genomics by Reducing False Discovery in Next generation Sequencing Data Book Review:

Abstract: Next-generation sequencing technologies are ushering in the next generation of clinical diagnostics. However, even minute sequencing error rates can make for unwieldy numbers of false positives in single-genome variation analysis, potentially requiring prioritization and validation of hundreds of errors per patient. In order to interpret accurately the variation in an individual whole human genome, it is essential to fully characterize the quality of the data being interpreted. Here I present methods for improving the accuracy of next-generation sequencing variant calls, as well as assessing the specificity, sensitivity and thresholding of those calls. In particular, I present an algorithm for detecting heterozygous deletions that has clinical relevance to the most prevalent neuro-degenerative disease, neuronal ceroid lipofuscinosis (NCL). I describe a platform-independent method for choosing variant calling thresholds, and I present a toolkit for calibrating sequencing quality scores by applying this method to genome replicates (mkSProC). I illustrate the specificity and sensitivity of variables influencing phase confidence to enable targeted experimental phasing and also to quantify confidence in computationally finishing experimental phasing. I combine experimental phasing results with expression data to find allele-specifically expressed (ASE) genes, and describe a feature that I added to a web server of regulatory-motif binding sites (UniPROBE) that can be used for, among other things, finding motifs to potentially explain ASE. Applying the methods I describe to genomic sequence data, expression data and phase data will further our understanding of causal variation and reduce experimental costs through targeted validation.