Abstract
Childhood disease results from the interplay of genetic, environmental, and developmental factors. The rapid development of DNA technologies has unmasked the genetic diversity of individuals, almost all of which is not functionally significant, making it difficult to identify which variants might be contributing to phenotype. This chapter reviews genetic terminology and provides an overview of the strengths and limitations of currently available genetic testing and interpretation.
Original language | English |
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Title of host publication | Kendig's Disorders of the Respiratory Tract in Children |
Publisher | Elsevier Inc. |
Pages | 40-48.e2 |
ISBN (Electronic) | 9780323555951 |
ISBN (Print) | 9780323448871 |
DOIs | |
State | Published - 2019 |
Keywords
- Exome sequencing
- Genetic association studies
- Genetic variation
- Genome sequencing
- Phenotype