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Using Full Genomic Information to Predict Disease: Breaking Down the Barriers Between Complex and Mendelian Diseases

Authors
  • Jordan, Daniel M.
  • Do, Ron
Type
Published Article
Journal
Annual Review of Genomics and Human Genetics
Publisher
Annual Reviews
Publication Date
Aug 31, 2018
Volume
19
Pages
289–301
Identifiers
DOI: 10.1146/annurev-genom-083117-021136
Source
Annual Reviews
Keywords
License
Yellow

Abstract

While sequence-based genetic tests have long been available for specific loci, especially for Mendelian disease, the rapidly falling costs of genome-wide genotyping arrays, whole-exome sequencing, and whole-genome sequencing are moving us toward a future where full genomic information might inform the prognosis and treatment of a variety of diseases, including complex disease. Similarly, the availability of large populations with full genomic information has enabled new insights about the etiology and genetic architecture of complex disease. Insights from the latest generation of genomic studies suggest that our categorization of diseases as complex may conceal a wide spectrum of genetic architectures and causal mechanisms that ranges from Mendelian forms of complex disease to complex regulatory structures underlying Mendelian disease. Here, we review these insights, along with advances in the prediction of disease risk and outcomes from full genomic information.

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