期刊
BRIEFINGS IN FUNCTIONAL GENOMICS
卷 14, 期 5, 页码 352-357出版社
OXFORD UNIV PRESS
DOI: 10.1093/bfgp/elv017
关键词
copy number variation; transcriptome; gene expression; eQTLs; GWAS
资金
- Genotype-Tissue Expression project (GTeX) grant [R01 MH090937]
Recent years have witnessed a flurry of important technological and methodological developments in the discovery and analysis of copy number variations (CNVs), which are increasingly enabling the systematic evaluation of their impact on a broad range of phenotypes from molecular-level (intermediate) traits to higher-order clinical phenotypes. Like single nucleotide variants in the human genome, CNVs have been linked to complex traits in humans, including disease and drug response. These recent developments underscore the importance of incorporating complex forms of genetic variation into disease mapping studies and promise to transform our understanding of genome function and the genetic basis of disease. Here we review some of the findings that have emerged from transcriptome studies of CNVs facilitated by the rapid advances in -omics technologies and corresponding methodologies.
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