
Genomics of Rare Diseases
Understanding Disease Genetics Using Genomic Approaches
Description
Key Features
- 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
Readership
Active researchers; basic and translational scientists; clinicians in the areas of rare disease, human genetics, human genomics; translational researchers in genetic and genomic medicine, epigenetics, neuroscience, internal medicine, oncology, psychiatry, neurology, immunology, embryology, endocrinology, bioinformatics, prenatal testing, psychology, psychiatry, and genetic testing; genetic counselors; rare disease specialists; fertility specialists; bioethicists; hospital administrators
Table of Contents
- 1. Introduction to concepts of genetics and genomics
2. Karyotyping as the first genomic approach
3. Genomic disorders
4. Genomic sequencing of rare diseases
5. Recessive diseases and founder genetics
6. Dominant and de novo disorders
7. X-linked and mitochondrial disorders
8. Mosaicism in rare disease
9. Dual diagnoses of rare disorders
10. Statistical approaches to rare disease analyses
11. Transcriptomics in rare diseases
12. Other omics approaches to the study of rare diseases
13. Challenges and opportunities in rare diseases research
Product details
- No. of pages: 316
- Language: English
- Copyright: © Academic Press 2021
- Published: June 12, 2021
- Imprint: Academic Press
- Paperback ISBN: 9780128201404
- eBook ISBN: 9780128204368