2016
DOI: 10.1155/2016/2395341
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Identifying Liver Cancer-Related Enhancer SNPs by Integrating GWAS and Histone Modification ChIP-seq Data

Abstract: Many disease-related single nucleotide polymorphisms (SNPs) have been inferred from genome-wide association studies (GWAS) in recent years. Numerous studies have shown that some SNPs located in protein-coding regions are associated with numerous diseases by affecting gene expression. However, in noncoding regions, the mechanism of how SNPs contribute to disease susceptibility remains unclear. Enhancer elements are functional segments of DNA located in noncoding regions that play an important role in regulating… Show more

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Cited by 9 publications
(8 citation statements)
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“…Human genetics studies have offered the strongest evidence thus far to connect genes to human diseases. In 2016, Zhang et al [ 10 ] identified 22 liver cancer–related enhancer single-nucleotide polymorphisms by integrating genome-wide association study (GWAS) data and histone modification ChIP-seq data. Sanseau and Agarwal [ 11 ] found that disease genes extracted from GWAS data were 2.7-fold more likely to be drug targets.…”
Section: Introductionmentioning
confidence: 99%
“…Human genetics studies have offered the strongest evidence thus far to connect genes to human diseases. In 2016, Zhang et al [ 10 ] identified 22 liver cancer–related enhancer single-nucleotide polymorphisms by integrating genome-wide association study (GWAS) data and histone modification ChIP-seq data. Sanseau and Agarwal [ 11 ] found that disease genes extracted from GWAS data were 2.7-fold more likely to be drug targets.…”
Section: Introductionmentioning
confidence: 99%
“…Given the fact that experimentally identifying of the complete list of disease-related genes is generally impractical due to the high cost, computational methods have been proposed in the last decades to predict the relationships between genes and human diseases [ 2 10 ]. However, these tools, including filtering methods based on a set of criteria [ 11 ], text mining of biomedical literature [ 12 ], integration of genomic data [ 13 15 ], semantic similarity [ 16 21 ] based disease gene prioritization [ 22 ] and network analysis based and highly robust approach [ 8 , 23 26 ], remain pre-eminent [ 27 ].…”
Section: Introductionmentioning
confidence: 99%
“…According to the number of mutated bases, genomic variations have been classified as: 1) single-nucleotide variations (formerly single-nucleotide polymorphisms); 2) very short insertions and deletions, usually less than 50 bp; and 3) structural variations, usually longer than 50 bp (Genome structural variati, 2011). Gene mutations are known to be closely related to the occurrence and development of diseases ( Hunt et al, 2014 ; Alkan et al, 2011 ; Yin et al, 2020 ; Fang et al, 2019 ; Li et al, 2020a ; He et al, 2020 ; Zhang et al, 2020a ; Zhang et al, 2016 ; Hu et al, 2021 ; Hu et al, 1990 ; Hu et al, 2020 ). High-throughput sequencing technologies have allowed the mutations in the genomes of patients with particular diseases to be determined systematically, quickly and accurately, including common but less studied synonymous mutations in the coding regions of genomes ( Meyerson et al, 2010 ; Li et al, 2017 ; Cheng et al, 2018 ; Zhou et al, 2019 ).…”
Section: Introductionmentioning
confidence: 99%