paperKB
coga / coga-kb
Help
Sign in

Chunk #14 — Results — SCAN: SNP and CNV annotation as eQTLs

Source
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
Embedded
yes

Text

Given the observed functional relevance of tCNVs as regulatory polymorphisms, we comprehensively and systematically characterized the recent genome-wide survey of CNVs in HapMap lymphoblastoid cell lines (LCLs) for their role in expression. We expanded our SCAN database [12], which to date serves results only on expression associated SNPs, to include eQTL mappings of HapMap CNVs to transcriptional expression (assayed by the Affymetrix exon array) in the full set of HapMap CEU (Caucasians from UT, USA) and YRI (Yoruba people from Ibadan, Nigeria) populations (See Materials and Methods). This online catalog of expression associated CNVs (eCNVs), publicly available at http://www.scandb.org, should serve as an important resource in helping to inform our understanding of complex traits.