Skip to main content

Save up to 20% on Elsevier print and eBooks with free shipping. No promo code needed.

Save up to 20% on print and eBooks.

Clinical DNA Variant Interpretation

Theory and Practice

1st Edition - February 27, 2021

Editors: George P. Patrinos, Conxi Lázaro, Jordan Lerner-Ellis, Amanda Spurdle

Language: English
Paperback ISBN:
9 7 8 - 0 - 1 2 - 8 2 0 5 1 9 - 8
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 2 0 5 2 0 - 4

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, techno… Read more

Clinical DNA Variant Interpretation

Purchase options

LIMITED OFFER

Save 50% on book bundles

Immediately download your ebook while waiting for your print delivery. No promo code is needed.

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.