Article
A genome-wide comparison of the functional properties of rare and common genetic variants in humans.
American journal of human genetics - 8 Apr 2011
Zhu Qianqian, Ge Dongliang, Maia Jessica M, Zhu Mingfu, Petrovski Slave, Dickson Samuel P, Heinzen Erin L, Shianna Kevin V, Goldstein David B
Abstract excerpt
One of the longest running debates in evolutionary biology concerns the kind of genetic variation that is primarily responsible for phenotypic variation in species. Here, we address this question for humans specifically from the perspective of population allele frequency of variants across the complete genome, including both coding and noncoding regions. We establish simple criteria to assess the likelihood that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.