Genomics of Rare Diseases

This book PDF is perfect for those who love Medical genre, written by Claudia Gonzaga-Jauregui and published by Academic Press which was released on 12 June 2021 with total hardcover pages 316. You could read this book directly on your devices with pdf, epub and kindle format, check detail and related Genomics of Rare Diseases books below.

Genomics of Rare Diseases
Author : Claudia Gonzaga-Jauregui
File Size : 53,8 Mb
Publisher : Academic Press
Language : English
Release Date : 12 June 2021
ISBN : 9780128204368
Pages : 316 pages
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Genomics of Rare Diseases by Claudia Gonzaga-Jauregui Book PDF Summary

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

Genomics of Rare Diseases

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

DOWNLOAD
Genomics of Rare Diseases

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

DOWNLOAD
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