Clinical DNA Variant Interpretation : Theory and Practice

Book Details

Format Paperback / Softback

Book Series Translational and Applied Genomics

ISBN-10 0128205199

ISBN-13 9780128205198

Publisher Elsevier Science Publishing Co Inc

Imprint Academic Press Inc

Country of Manufacture NL

Country of Publication GB

Publication Date Mar 2nd, 2021

Print length 436 Pages

Weight 880 grams

Dimensions 19.30 x 23.60 x 2.70 cms

Product Classification: Genetics (non-medical)DNA & Genome

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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.

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