Article
Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.
Human genetics - 1 May 2016
Cavalli Marco, Pan Gang, Nord Helena, Wallerman Ola, Wallén Arzt Emelie, Berggren Olof, Elvers Ingegerd, Eloranta Maija-Leena, Rönnblom Lars, Lindblad Toh Kerstin, Wadelius Claes
Abstract excerpt
Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for transcription factors binding preferentially to one allele. We found 9962 candidate regulatory SNPs,...
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