Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) - Image 1

£110.49

Academic Press Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics)

Name: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics)
Brand: Academic Press
Price: 110.49 GBP
Availability: InStock

Genetics

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Description

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Key Features

Genomics Of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches Translational And Applied Genomics

Product Type : Abis Book

Brand : Academic Press

Product Specifications

Brand: Academic Press
Format: paperback
ASIN: 0128201401
Category: Books > Subjects > Science, Nature & Maths > Biological Sciences > Genetics
Domain: Amazon UK
Release Date: 25 June 2021
Listed Since: 01 October 2019

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Academic Press Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics)

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