Clinical Dna Variant Interpretation (27 results)

PAP. Condition: New. New Book. Shipped from UK. Established seller since 2000.

Condition: New.

PAP. Condition: New. New Book. Shipped from UK. Established seller since 2000.

Paperback. Condition: New. Brand new book, sourced directly from publisher. Dispatch time is 24-48 hours from our warehouse. Book will be sent in robust, secure packaging to ensure it reaches you securely.

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Condition: New. 2021. Paperback. . . . . .

Paperback. Condition: new. Paperback. Clinical DNA Variant Interpretation: Theory and Practice Shipping may be from multiple locations in the US or from the UK, depending on stock availability.

Condition: As New. Unread book in perfect condition.

Paperback. Condition: New. 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.…

Condition: New. In English.

Paperback. Condition: Brand New. 464 pages. 9.25x7.50x1.02 inches. In Stock.

Paperback. Condition: New. 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.…

Condition: New. 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 .

Taschenbuch. Condition: Neu. Neuware - 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.…

Condition: New. 2021. Paperback. . . . . . Books ship from the US and Ireland.

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Paperback. Condition: New. 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.…

Condition: New. pp. 464.

Paperback. Condition: Brand New. 464 pages. 9.25x7.50x1.02 inches. In Stock.

Taschenbuch. Condition: Neu. Clinical DNA Variant Interpretation | Theory and Practice | Amanda Spurdle (u. a.) | Taschenbuch | Translational and Applied Genomics | Einband - flex.(Paperback) | Englisch | 2021 | Elsevier Science Publishing Co Inc | EAN 9780128205198 | Verantwortliche Person für die EU: Libri GmbH, Europaallee 1, 36244 Bad Hersfeld, gpsr[at]libri[dot]de | Anbieter: preigu.…

Condition: New. pp. 464.

Paperback. Condition: New. 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.…

Paperback. Condition: new. Paperback. Clinical DNA Variant Interpretation: Theory and Practice Shipping may be from our Sydney, NSW warehouse or from our UK or US warehouse, depending on stock availability.

Taschenbuch. Condition: Neu. Neuware - Turn complex hereditary disease, laboratory reports, and genomic decision-making into a clearer clinical learning pathway. Clinical Genetics & Genomic Medicine is a comprehensive professional reference for readers who need a structured way to understand modern human heredity, molecular diagnosis, cytogenetics, variant classification, disease recognition, pharmacogenomics, reproductive applications, and emerging genomic interventions. Designed for genetics fellows, senior residents, clinicians, medical learners, and healthcare educators, this atlas-style resource moves from foundational molecular principles to practical organ-system applications. It connects DNA structure, inheritance patterns, chromosome analysis, sequencing platforms, ACMG/AMP evidence logic, genetic counseling, ethical issues, and precision therapeutics into one organized learning framework. The manuscript is arranged as a broad clinical atlas, beginning with molecular foundations and pedigree reasoning before moving into cytogenetics, chromosomal disorders, genomic test selection, variant classification, organ-system genetics, prenatal and reproductive applications, pharmacogenomics, gene therapy, genome editing, counseling practice, and ethical decision-making. Its structure supports careful study, professional review, and classroom or clinical teaching. Inside, you will find: - Build a stronger foundation in molecular biology, inheritance patterns, pedigree analysis, and chromosomal abnormalities.- Understand how sequencing, cytogenetics, microarray, exome, genome, and emerging technologies support diagnostic reasoning.- Apply structured thinking to variant classification, VUS communication, cascade screening, and family-risk assessment.- Explore major areas of medical genomics, including metabolic, neurogenetic, cardiovascular, skeletal, cancer, renal, immune, dermatologic, prenatal, and pharmacogenomic conditions.- Connect molecular findings with careful clinical interpretation, patient communication, surveillance planning, and multidisciplinary care.- Review ethical, counseling, consent, confidentiality, and service-delivery issues that shape responsible genomic practice.Whether you are studying, teaching, reviewing clinical genetics, or building confidence with genomic reports, this book offers a detailed and organized pathway through one of the fastest-evolving areas of modern healthcare.Use it as a reference companion for deeper study, case-based learning, and more confident navigation of genomic medicine concepts.…

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