Mendelian disorders and multifactorial traits: the big divide or one for all?

作者:Antonarakis Stylianos E*; Chakravarti Aravinda; Cohen Jonathan C; Hardy John
来源:Nature Reviews Genetics, 2010, 11(5): 380-384.
DOI:10.1038/nrg2793

摘要

For the past century, Mendelian and multifactorial traits have existed at opposite ends of the disease spectrum in humans. Furthermore, the recent emphasis on genome-wide association studies for uncovering variants that underlie common diseases has risked deepening the divide - or has it? Four experienced human geneticists express their views on the changing landscape of human disease studies and the impact of new technologies and study designs on the age-old aim of connecting a genomic variant with its phenotypic consequences.

  • 出版日期2010-5