Open Daily: 10am - 10pm | Alley door pickup 10am - 7pm 3038 Hennepin Ave Minneapolis, MN
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  • Open Daily: 10am - 10pm
    Alley-side Pickup: 10am - 7pm

    3038 Hennepin Ave Minneapolis, MN
    612-822-4611

Open Daily: 10am - 10pm | Alley-side Pickup: 10am - 7pm
3038 Hennepin Ave Minneapolis, MN
612-822-4611
Clinical DNA Variant Interpretation: Theory and Practice

Clinical DNA Variant Interpretation: Theory and Practice

Lázaro, Conxi
Lerner-Ellis, Jordan
Spurdle, Amanda

Paperback

Series: Translational and Applied Genomics

Medical ReferenceGenetics

ISBN10: 0128205199
ISBN13: 9780128205198
Publisher: Academic Press
Published: Mar 2 2021
Pages: 436
Weight: 2.00
Height: 0.91 Width: 7.51 Depth: 9.21
Language: English
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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