Genomics of Rare Diseases is popular PDF and ePub book, written by Claudia Gonzaga-Jauregui in 2021-06-12, it is a fantastic choice for those who relish reading online the Medical genre. Let's immerse ourselves in this engaging Medical book by exploring the summary and details provided below. Remember, Genomics of Rare Diseases can be Read Online from any device for your convenience.
Genomics of Rare Diseases 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
Detail Book of Genomics of Rare Diseases PDF
- Author : Claudia Gonzaga-Jauregui
- Release : 12 June 2021
- Publisher : Academic Press
- ISBN : 9780128204368
- Genre : Medical
- Total Page : 316 pages
- Language : English
- PDF File Size : 17,9 Mb
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