Basic Genetics and Epigenetics of Childhood Lung Disease

Jennifer Wambach, Bimal Pankaj Chaudhari, Aaron Hamvas

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

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 languageEnglish
Title of host publicationKendig's Disorders of the Respiratory Tract in Children
PublisherElsevier Inc.
Pages40-48.e2
ISBN (Electronic)9780323555951
ISBN (Print)9780323448871
DOIs
StatePublished - 2019

Keywords

  • Exome sequencing
  • Genetic association studies
  • Genetic variation
  • Genome sequencing
  • Phenotype

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