From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation

Barbara Elaine Stranger*, Emmanouil T. Dermitzakis

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations

Abstract

Much of the focus of human disease genetics is directed towards identifying nucleotide variants that contribute to disease phenotypes. This is a complex problem, often involving contributions from multiple loci and their interactions, as well as effects due to environmental factors. Although some diseases with a genetic basis are caused by nucleotide changes that alter an amino acid sequence, in other cases, disease risk is associated with altered gene regulation. This paper focuses on how studies of gene expression variation might complement disease studies and provide crucial links between genotype and phenotype.

Original languageEnglish (US)
Pages (from-to)383-390
Number of pages8
JournalHuman genomics
Volume2
Issue number6
DOIs
StatePublished - Jun 2006

Keywords

  • Association mapping
  • Gene expression
  • Human disease
  • Linkage mapping

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery

Fingerprint Dive into the research topics of 'From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation'. Together they form a unique fingerprint.

Cite this