The genetics and genomics of cystic fibrosis

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Genetics is the branch of biology concerned with study of individual genes and how they work whereas genomics is involved with the analysis of all genes and their interactions. Both of these approaches have been applied extensively to CF. Identification of the CFTR gene initiated the dissection of CF genetics at the molecular level. Subsequently, thousands of variants were found in the gene and the functional consequences of a subset have been studied in detail. The completion of the human genome ushered in a new phase of study where the role of genes beyond CFTR could be evaluated for their contribution to the severity of CF. This will be a brief overview of the contribution of these complementary methods to our understanding of CF pathogenesis.

Original languageEnglish (US)
Pages (from-to)S5-S9
JournalJournal of Cystic Fibrosis
StatePublished - Mar 2020


  • Association
  • CFTR
  • Cystic fibrosis
  • Genetic modifiers
  • Linkage

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine


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