The continuum of causality in human genetic disorders.

Published online

Journal Article

Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on their population frequencies. The availability of exome and genome data, as well as gene and allele discovery for various conditions, is beginning to challenge classic definitions of genetic causality. Here, I discuss recent advances in our understanding of the overlap between rare and complex diseases and the context-dependent effect of both rare and common alleles that underscores the need for revising the traditional categorizations of genetic traits.

Full Text

Duke Authors

Cited Authors

  • Katsanis, N

Published Date

  • November 17, 2016

Published In

Volume / Issue

  • 17 / 1

Start / End Page

  • 233 -

PubMed ID

  • 27855690

Pubmed Central ID

  • 27855690

Electronic International Standard Serial Number (EISSN)

  • 1474-760X

Digital Object Identifier (DOI)

  • 10.1186/s13059-016-1107-9


  • eng

Conference Location

  • England