Clinical DNA Variant Interpretation: Theory and Practice

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Clinical DNA Variant Interpretation:...

Clinical DNA Variant Interpretation: Theory and Practice

Name: Clinical DNA Variant Interpretation: Theory and Practice
ISBN: 9780128205198

Conxi Lázaro, Jordan Lerner-Ellis, Amanda Spurdle

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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.

카테고리:

Medicine

년:

2021

출판사:

Academic Press

언어:

english

페이지:

436

ISBN 10:

0128205199