Clinical DNA Variant Interpretation

Name: Clinical DNA Variant Interpretation
Brand: Elsevier Science Publishing Co Inc
SKU: 9780128205198
Price: 820.31 RON
Availability: InStock

Autor: Jordan Lerner-Ellis, Amanda Spurdle

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Editura: Elsevier Science Publishing Co Inc

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820.31 lei

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Appl...

Informații despre carte

Autor

Jordan Lerner-Ellis, Amanda Spurdle

Limbă

engleză

Legare

Carte - Carte broșată

Publicat

2021

Pagini

436

EAN

9780128205198

ISBN

0128205199

Enbook ID

32627387

Editura

Elsevier Science Publishing Co Inc

Greutate

880

Dimensiuni

236 x 193 x 27

Descriere completă

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. 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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Clinical DNA Variant Interpretation

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