Blog
About

  • Record: found
  • Abstract: found
  • Article: not found

Probing genetic overlap among complex human phenotypes.

Proceedings of the National Academy of Sciences of the United States of America

genetics, Schizophrenia, Phenotype, Models, Genetic, Likelihood Functions, Humans, Genome, Human, Genetic Variation, Bipolar Disorder, Autistic Disorder

Read this article at

ScienceOpenPublisherPMC
Bookmark
      There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

      Abstract

      Geneticists and epidemiologists often observe that certain hereditary disorders cooccur in individual patients significantly more (or significantly less) frequently than expected, suggesting there is a genetic variation that predisposes its bearer to multiple disorders, or that protects against some disorders while predisposing to others. We suggest that, by using a large number of phenotypic observations about multiple disorders and an appropriate statistical model, we can infer genetic overlaps between phenotypes. Our proof-of-concept analysis of 1.5 million patient records and 161 disorders indicates that disease phenotypes form a highly connected network of strong pairwise correlations. Our modeling approach, under appropriate assumptions, allows us to estimate from these correlations the size of putative genetic overlaps. For example, we suggest that autism, bipolar disorder, and schizophrenia share significant genetic overlaps. Our disease network hypothesis can be immediately exploited in the design of genetic mapping approaches that involve joint linkage or association analyses of multiple seemingly disparate phenotypes.

      Related collections

      Author and article information

      Journal
      17609372
      1906727
      10.1073/pnas.0704820104

      Comments

      Comment on this article