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Genomics of Rare Diseases
Understanding Disease Genetics Using Genomic Approaches
Sofort lieferbar | Lieferzeit: Sofort lieferbar I
ISBN-13:
9780128204368
Veröffentl:
2021
Seiten:
316
Autor:
Claudia Gonzaga-Jauregui
eBook Typ:
EPUB
eBook Format:
EPUB
Kopierschutz:
2 - DRM Adobe
Sprache:
Englisch
Beschreibung:
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.
1. Introduction to concepts of genetics and genomics 2. Karyotyping as the first genomic approach 3. Genomic disorders 4. Genomic sequencing of rare diseases5. Recessive diseases and founder genetics 6. Dominant and de novo disorders7. X-linked and mitochondrial disorders8. Mosaicism in rare disease 9. Dual diagnoses of rare disorders 10. Statistical approaches to rare disease analyses11. Transcriptomics in rare diseases 12. Other omics approaches to the study of rare diseases13. Challenges and opportunities in rare diseases research
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