From genome to function by studying eQTLs . Biochim Biophys Acta . 2014; 1842 : 1896–1902. doi: 10.1016/j.bbadis.2014.04.024Westra H-J, Franke L. From genome to function by studying eQTLs. Bio- chimica et Biop
From genome to function by studying eQTLs. Biochim. Biophys. Acta 1842, 1896–1902 (2014). Article CAS PubMed Google Scholar Siepel, A. et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15, 1034–1050 (2005). Article CAS PubMed PubMed...
Results from genome-wide association studies (GWAS) combined with functional and integrative analyses have elucidated the impacts of some diabetes risk-associated variants that are involved in the regulation of the immune system. Additionally, genetic variant mapping to enhancer regions may alter enhancer...
422 controls, all from the UK [12]. The subjects were tested for association to some 300,000 genetic variants in the human genome (so-called single nucleotide polymorphisms or SNPs) and the top 1,500 most associated SNPs were followed-up in replication cohorts consisting...
Accounting for this, we demonstrate how Akita can be used to perform in silico saturation mutagenesis, interpret eQTLs, make predictions for structural variants and probe species-specific genome folding. Collectively, these results enable decoding genome function from sequence through structure....
scReQTLs common between individ- uals or cell types were consistent in terms of the direc- tionality of the relationship and the effect size. In addition, scReQTLs were substantially enriched in known gene-gene interactions and significant genome- wide association studies (GWAS) loci. Results ...
development of transcript and functional maps, estimations of genetic diversity, marker-assisted selection (MAS), candidate-gene (CG) approach and map-based cloning, genetical genomics and identification of eQTLs, study of genome organization and taxonomic and phylogenetic studies. At the end, we also...
This methodological framework allows us to dissect the epigenetic and transcriptional consequences of the genetic architecture of MDx, enhancing our understanding of their molecular pathophysiology. Methods We created a new genome-wide mQTL resource by analysing DNAm levels quantified at over 850,000 ...
mQTLs/eQTLs of GPX7 and SNX19 identified in the genome-wide analysis were biologically validated in pancreatic islets from a different set of human donors.Anders H. OlssonPetr VolkovKarl BacosTasnim DayehElin HallEmma A. Ni...
During the first five years after the first GWAS, information regarding the specific genetic variants that exist in human populations was limited, and the functions of the noncoding regions of the genome were largely unexplored. As a consequence, early post-GWAS functional studies first had to def...