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.
1. Chapter 1 : Introduction to concepts of genetics and genomics - p. Page xiv 2. Chapter 2 : Karyotyping as the first genomic approach - p. Page 15 3. Chapter 3 : Genomic disorders in the genomics era - p. Page 31 4. Chapter 4 : Genomic sequencing of rare diseases - p. Page 49 5. Chapter 5 : Recessive diseases and founder genetics - p. Page 88 6. Chapter 6 : Dominant and sporadic de novo disorders - p. Page 112 7. Chapter 7 : X-linked and mitochondrial disorders - p. Page 131 8. Chapter 8 : Mosaicism in rare disease - p. Page 146 9. Chapter 9 : Multilocus inheritance and variable disease expressivity in rare disease - p. Page 177 10. Chapter 10 : Statistical approaches to rare disease analyses - p. Page 200 11. Chapter 11 : Transcriptomics in rare diseases - p. Page 212 12. Chapter 12 : Other omics approaches to the study of rare diseases - p. Page 226 13. Chapter 13 : Challenges and opportunities in rare diseases research - p. Page 249 14. Index - p. Page 279
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.
1. Chapter 1 : Introduction to concepts of genetics and genomics - p. Page xiv 2. Chapter 2 : Karyotyping as the first genomic approach - p. Page 15 3. Chapter 3 : Genomic disorders in the genomics era - p. Page 31 4. Chapter 4 : Genomic sequencing of rare diseases - p. Page 49 5. Chapter 5 : Recessive diseases and founder genetics - p. Page 88 6. Chapter 6 : Dominant and sporadic de novo disorders - p. Page 112 7. Chapter 7 : X-linked and mitochondrial disorders - p. Page 131 8. Chapter 8 : Mosaicism in rare disease - p. Page 146 9. Chapter 9 : Multilocus inheritance and variable disease expressivity in rare disease - p. Page 177 10. Chapter 10 : Statistical approaches to rare disease analyses - p. Page 200 11. Chapter 11 : Transcriptomics in rare diseases - p. Page 212 12. Chapter 12 : Other omics approaches to the study of rare diseases - p. Page 226 13. Chapter 13 : Challenges and opportunities in rare diseases research - p. Page 249 14. Index - p. Page 279
