Genomics of Rare Diseases
  • Release Date : 01 June 2021
  • Publisher : Academic Press
  • Categories : Medical
  • Pages : 304 pages
  • ISBN 13 : 9780128204368
  • ISBN 10 : 0128204362
Score: 4
From 245 Ratings
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Synopsis : Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui, published by Academic Press which was released on 01 June 2021. Download Genomics of Rare Diseases Books now! Available in PDF, EPUB, Mobi Format. 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

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