Clinical DNA Variant Interpretation: Theory and Practice

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Medicine
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.

Catégories:

Medicine

Année:

2021

Editeur::

Academic Press

Langue:

english

Pages:

436

ISBN 10:

0128205199