Clinical DNA Variant Interpretation: Theory and Practice

Lazaro, Conxi

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Book Information
Edition:	1st
Publisher:	Academic Press, Incorporated
ISBN:	0-12-820519-9 (0128205199)
ISBN-13:	978-0-12-820519-8 (9780128205198)
Binding:	Softcover
Copyright:	2021
Publish Date:	03/21
Weight:	0.00 Lbs.
Pages:	436
Subject Class:	GEN (Genetics)
Return Policy:	Returns accepted up to 90 days provided no other recalls or return restrictions apply.
ProQuest Ebook Central:	Available in ProQuest Ebook Central™ View

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Abstract:

We live in a very exciting time in the field of human genetics; NGS technology is generating enormous amounts of data for classifying genetic variants. However, defining the role of these variants in human health and disease can be difficult, especially when a variant's mechanism of action or the phenotype associated with a genetic mutation are not well defined. Work in multidisciplinary teams and development of multifactorial algorithms, including artificial intelligence and machine learning approaches, are integral to streamlining variant classification. Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, brings more than thirty international experts together to compile variant interpretation best practices and approaches in a single volume, covering 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 and somatic profiling; CNV interpretation; quantitative modeling; machine learning approaches; genomic data sharing; genetic testing in clinical practice; and holistic case-level interpretation. Biomedical specialties of relevance include internal medicine, medical genetics, oncology, psychiatry, neurology, and immunology, and those driving implementation of precision medicine and personalized treatments. Compiles best practices, methods, and sound evidence for DNA variant classification in one, applied volumeFeatures chapter contributions from international leaders in the fieldIncludes practical examples of variant classification for common and rare disorders and across clinical phenotypes

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