clinical dna variant interpretation

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Clinical DNA Variant Interpretation
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Publisher : Academic Press
Release Date :
ISBN 10 : 0128205202
Pages : 436 pages
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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

Clinical DNA Variant Interpretation

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,

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Clinical Genomics

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Next Generation Sequencing

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)

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Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the

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Diagnostic Molecular Biology

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Genomic Disorders

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Advanced Topics in Forensic DNA Typing  Interpretation

Advanced Topics in Forensic DNA Typing: Interpretation builds upon the previous two editions of John Butler’s internationally acclaimed Forensic DNA Typing textbook with forensic DNA analysts as its primary audience. Intended as a third-edition companion to the Fundamentals of Forensic DNA Typing volume published in 2010 and Advanced Topics in

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Mapping and Sequencing the Human Genome

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies

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