Beyond mendel: An evolving view of human genetic disease transmission

Jose L. Badano, Elias Nicholas Katsanis

Research output: Contribution to journalReview articlepeer-review

263 Scopus citations

Abstract

Methodological and conceptual advances in human genetics have led to the identification of an impressive number of human disease genes. This wealth of information has also revealed that the traditional distinction between Mendelian and complex disorders might sometimes be blurred. Genetic and mutational data on an increasing number of disorders have illustrated how phenotypic effects can result from the combined action of alleles in many genes. In this review, we discuss how an improved understanding of the genetic basis of multilocus inheritance is catalysing the transition from a segmented view of human genetic disease to a conceptual continuum between Mendelian and complex traits.

Original languageEnglish (US)
Pages (from-to)779-789
Number of pages11
JournalNature Reviews Genetics
Volume3
Issue number10
DOIs
StatePublished - Oct 1 2002

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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