"Reverse Genomics" Predicts Function of Human Conserved Noncoding Elements.

ABSTRACT: Evolutionary changes in cis-regulatory elements are thought to play a key role in morphological and physiological diversity across animals. Many conserved noncoding elements (CNEs) function as cis-regulatory elements, controlling gene expression levels in different biological contexts. However, determining specific associations between CNEs and related phenotypes is a challenging task. Here, we present a computational "reverse genomics" approach that predicts the phenotypic functions of human CNEs. We identify thousands of human CNEs that were lost in at least two independent mammalian lineages (IL-CNEs), and match their evolutionary profiles against a diverse set of phenotypes recently annotated across multiple mammalian species. We identify 2,759 compelling associations between human CNE

SUBMITTER: Marcovitz A 

PROVIDER: S-EPMC4909134 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature